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Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report
International Journal of Paleopathology 1 (2011) 200–206
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Case Study
Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report Iwona Kozieradzka-Ogunmakin ∗ KNH Centre for Biomedical Egyptology, Faculty of Life Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester, M13 9PT, United Kingdom
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Article history: Received 14 April 2011 Received in revised form 10 October 2011 Accepted 12 October 2011 Keywords: Multiple epiphyseal dysplasia Scoliosis, Brachydactyly, Genu varum, Osteoarthritis, Old Kingdom Egypt
a b s t r a c t The skeletal remains of a young adult male (aged 25–35 years) recovered from an Old Kingdom cemetery at Saqqara, Egypt, displayed multiple skeletal abnormalities in the limbs and vertebral column. These included bilateral shortening and robusticity of the humeri with flared distal metaphyses and exaggerated muscle attachments, early-onset osteoarthritic changes in the glenohumeral joints, thoraco-lumbar scoliosis, deformities of the proximal tibiae characteristic of a genu varum condition, angulation and shortening of the fourth metacarpal and metatarsal typical of brachydactyly type E1, and possible mild short stature. The condition has been diagnosed as multiple epiphyseal dysplasia (MED). This case of MED is possibly only the second example to be reported in skeletal material from ancient Egypt. No other reports of MED in archaeological material are currently known. © 2011 Elsevier Inc. All rights reserved.
1. Introduction Congenital diseases affecting the skeleton are rare findings in past populations, for their identification depends greatly on the preservation and completeness of human remains recovered from archaeological sites. In ancient Egypt, exceptional preservation of human remains was facilitated by the hot and dry desert environment chosen for inhumations, and was later enhanced by implementing a set of elaborate funerary practices that were developed over time (Taylor, 2001). The great effort expended over the preservation of the human body was religiously motivated, and aimed to keep the body complete in order for the deceased to achieve immortality in the afterlife. Hence, a respectable number of congenital cases, such as achondroplasia, are attested in ancient Egyptian skeletal material (Dasen, 1988; Dawson, 1938; El-Aguizy, 1987; Kozieradzka, 2006:266; Kozma, 2006, 2008). Achondroplasia is one of over 200 heterogeneous bone growth disorders with a genetic aetiology classified as skeletal dysplasias, and characterised by an abnormally shaped and sized skeleton and disproportion of the head, trunk and long bones (Aufderheide and Rodríguez-Martín, 2003:357–370; Bailey, 1973). Differential diagnosis in this group of disorders is based primarily on the location of abnormal bone growth in the skeleton, the severity of deformities, and on the presence/absence of additional features identified clinically or radiologically (Silverman, 1996; Spranger et al., 1974; Wynne-Davies et al., 1985). Skeletal dysplasias can demonstrate predominantly epiphyseal involvement (e.g., chondrodysplasia punctata, multiple epiphyseal dysplasia),
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predominantly metaphyseal involvement (e.g., achondroplasia), or major involvement of the spine (e.g., spondyloepiphyseal dysplasia, pseudoachondroplasia). This report presents a case of epiphyseal dysplasia identified among a group of 111 individuals unearthed at an ancient cemetery in Saqqara, Egypt. The cemetery was a burial ground for the local Memphite population during the Old Kingdom (2868–2181 BC) and the Late to Ptolemaic (664–30 BC) periods (My´sliwiec et al., 2004:37–38; My´sliwiec, 2008; My´sliwiec and Kuraszkiewicz, 2010). Burial 610 (B.610) that comprised the dysplastic human remains was dated to the Old Kingdom period based on its stratigraphic location and the type of interment. The body rested on its left-hand side in a flexed position and was placed in a rectangular reed coffin. Traces of interlocked fibres found adhering to the left side of the mandible indicate that the body may have been shrouded, or that the head rested on a piece of textile. The aim of this article is to describe the skeletal abnormalities observed on B.610 and to discuss the evidence for diagnosing the particular clinical disorder that underlies the observed changes. 2. Materials and methods 2.1. Preservation and completeness B.610 was found intact but the skeletal remains were damaged by a collapsed coffin lid that caused substantial postmortem fragmentation to the bone. Most severely affected were the right-side bones of the lower body that were crushed and, therefore, not available for examination. The skull, the vertebrae (C1-L5), and the upper body elements were satisfactorily preserved despite the fragmentation, and the only absent bones were the left carpals, the right fourth metacarpal, and the majority of the right and left
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phalanges. The lower segments of the sacrum and the pubic bones were not preserved, and the ilia and the ischial bones were very fragmentary. Also fragmented were the distal shaft of the left femur, the right tibial shaft, and the left distal tibia. The right femoral shaft and the left proximal femur, the proximal and distal fibulae, and the majority of the right foot bones were not preserved. 2.2. Examination methods The skeletal elements were photographed and examined visually on site. Age-at-death and sex estimations were determined by application of standard osteological methods based on the evaluation of physical and degenerative changes of the skeleton and dentition, and on the observation of morphological characteristics of the cranium and pelvis (Buikstra and Ubelaker, 1994). Fragmentation of the cranium and only partial preservation of the pelvis, however, made some of the observations difficult or impossible. The cranium and mandible exhibited typically masculine morphological features, except for the mastoid processes and nuchal area, and the sciatic notch of the pelvis was scored as ambiguous. Epiphyseal union of the skeletal elements was complete and no epiphyseal lines were visible. Degenerative changes of the auricular surfaces of the ilia corresponded with a Lovejoy et al. (1985) Phase 3 designation with an age range of 30–34. Also, early occlusal wear stages on the second and third molars and advanced wear on the second molars indicated a young adult aged 25–35 following Brothwell (1965:69) and Miles (1962). Overall, the individual was assessed to be a possible male aged 25–35 at death. The individual’s stature estimation based on the maximum length of the complete long bones was calculated using the regression formulae for ancient Egyptians created by Raxter et al. (2008). 3. Results 3.1. Findings Unlike the postcranial skeleton of B.610, the cranial bones exhibited no major morphological abnormalities on visual examination. Severe fragmentation of the skull restricted collection of craniometric data to the measurements of the upper facial height (nasion-prosthion), and the left orbital breadth and height (Table 1). The values of these measurements appeared normal and were comparable with the data collected on other Old Kingdom male
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specimens from the same cemetery (Kaczmarek, 2008:476). Evidence of possible nutritional stress was observed on the external surface of the occipital bone which showed changes characteristic of porotic hyperostosis, commonly associated with anemia (Walker et al., 2009). Also, multiple enamel hypoplastic lines indicating disrupted enamel growth, considered to be nonspecific indicators of stress (Goodman and Rose, 1990), were displayed on the anterior teeth. The cervical and the upper thoracic (T1-5) vertebrae demonstrated normal morphology, whereas the thoraco-lumbar spine displayed an abnormal scoliotic curvature resulting from the left lateral wedging of T10 to L3 (Fig. 1). This vertebral deformation is likely to have occurred in relation to other skeletal abnormalities that would have affected the individual’s posture, such as bow-leggedness (also identified in B.610). There was also a minimal right lateral wedging of L4, most probably compensatory to the superiorly located scoliotic curve. The lower thoracic and lumbar vertebrae displayed mild to moderate osteophytosis, porosity, and Schmorl’s nodes. The vertebral epiphyseal rings were normal, except for osteophytosis, and there was no visual reduction of height in the vertebral bodies. Scoliotic deformities in the thoracic spine are likely to have affected the morphology of the ribs (Kilgore and van Gerven, 2010; Ortner, 2003:468). In B.610, the left lower ribs showed slightly sharper than normal dorsal angles (Fig. 2) that were likely to have occurred due to the pressure applied to the rib bodies during the gradual progression of the scoliotic curve. Also, the bodies of the left seventh and eighth ribs showed evidence of healed trauma with callus formation at the fracture sites, and the articular surfaces on the heads of the right eleventh and twelfth ribs displayed severe degenerative changes (Fig. 3). On visual examination of the upper limb, the humeri presented gross abnormalities in shape and proportions, including minimal varus angulation of the upper diaphyses and bilateral shortening (Fig. 4). The shortening of the bones was confirmed by metric data which show the maximum length of the left humerus to have been almost 10 cm shorter than the mean maximum length of the bone in the Old Kingdom males from Saqqara (Table 1; Kaczmarek, 2008:483). The humeri were very robust with enlarged proximal and flared distal metaphyses, and flattened heads that formed enlarged articular surfaces that displayed mild porosity and marginal osteophytosis. The articulating glenoid fossae displayed similar, but more severe degenerative changes (Fig. 5). The muscle
Table 1 Comparison of cranial and postcranial metric data of B.10 with other Old Kingdom male individuals from Saqqaraa . Bone measurements (mm)
Cranial Upper facial height Orbital breadth Orbital height Postcranial Clavicle maximum length Humerus maximum length Humerus bicondylar width Humerus maximum mid-shaft diameter Humerus minimum shaft diameter Humerus least shaft circumference Radius maximum length Femur mid-shaft A–P diameter Femur mid-shaft M–L diameter Femur subtrochanteric A–P diameter Femur subtrochanteric M–L diameter Tibia bicondylar width Tibia A–P diameter at nutrient foramen Tibia M–L diameter at nutrient foramen a
B.610
Saqqara OK Males (Kaczmarek, 2008) n
Mean
74.5 40.5 34.5
3 3 3
70 38.7 33
144 220 52 22.5 18.5 55 195 24.5 14.3 28.3 18.2 61 17.8 20
2 3 3 – – – 2 – – – – 3 – –
137.5 318 50.5 – – – 239 – – – – 70.7 – –
OK – Old kingdom; n – number of individuals; A–P – anterior–posterior; M–L – medial-lateral; in B.10, all specimens except the clavicle are left-side bones.
Range 68–74 38–39 32–35 136–139 314–320 42–54 – – – 238–240 – – – – 68–74 – –
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Fig. 3. Inferior view of the right eleventh and twelfth ribs. The heads of the ribs display severe degenerative changes.
Fig. 1. Anterior view of the thoraco-lumbar spine (T10-L5). Note the scoliotic curve extending from the body of T10 to L3, and the right lateral wedging of the body of L4.
attachment sites on the humeri were pronounced with well defined margins and mounding, and showed moderate stress lesions. A similar prominence of the muscle attachment sites was seen on the radii and ulnae, especially on the left bones (Fig. 6). Unlike the humeri, the forearm bones exhibited normal size and proportions, although the maximum lengths of the radii (L = 19.5 cm; R = 19.9 cm) were approximately 4 cm shorter than the mean value in the Old Kingdom males from Saqqara (Table 1). As the bones’ proportions were normal, the sizes of the radii could be considered to fall within the normal variation in the population (White
Fig. 2. Superior view of the left lower ribs. Note angulation of the bodies and healed antemortem fracture with remodelled callus formation.
and Folkens, 1991:10–14). Hence in B.610, the disproportionate shortening affected only the proximal elements of the upper limbs. The lower limbs demonstrated different abnormalities. The left femur was of normal proportions, but its distal diaphysis presented an abnormal posteromedial angulation (Fig. 7). In the tibiae, the medial condyles were located more distally than normal, resulting in angulation of the tibial plateau (Fig. 8) characteristic of bilateral genu varum (bow-leggedness), a condition that involves the medial angulation of both femur and tibia (Levine and Drennan, 1982; Lim et al., 2008; Renander, 1945). The malalignment contributes to greater contact stresses on the medial tibiofemoral compartment that could accelerate osteoarthritic changes. In B.610, porotic lesions and mild marginal osteophytosis were present on the femoral condyles, corresponding to similar changes on the articular surfaces of the tibial condyles. The diaphyses of the tibiae and fibulae displayed normal proportions.
Fig. 4. Anterior view of the humeri. Note the abnormal shape, robust proportions and enlarged muscle attachment sites. The flattened heads form enlarged articular surfaces that display slight porosity and marginal osteophytes.
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Fig. 5. Lateral view of the right and left glenoid fossae of the scapulae. Both the elements display advanced stage of degenerative changes.
Several bones of the hands and feet exhibited abnormal shape and proportions. The left fourth metacarpal showed dorsal angulation and shortening, and similar size and shape abnormalities, were also present in the left fourth metatarsal (Fig. 9). The corresponding right-side bones were absent. Bone angulation could have resulted from a childhood trauma, whereas metacarpal/metatarsal shortening is likely to result from hypoplastic and partially fused epiphyses characteristic of brachydactyly (BD). BD may occur as an isolated dominant trait or as part of a syndrome (Mundlos, 2009:128), and can be manifested in a variety of patterns, depending on the elements of the hand/feet affected, and the severity of the shortening (Hortling et al., 1960; Temtamy and Aglan, 2008; Winter et al., 1993). The shortening of the metacarpals and/or metatarsals occurs in BD type E (BDE), with the fourth and fifth elements being most commonly affected. In B.610, the shortening being limited to the fourth metacarpal and metatarsal was characteristic of subtype E1 (Hertzog, 1968). Additionally in the feet, the diaphyses of the left
Fig. 6. Anterior view of the upper left limb elements. The forearm bones are of normal size and proportions compared with the abnormal proportions of the humerus. Note that the distal end of the radius is a separate fragment not shown.
Fig. 7. Medial view of the left femoral diaphysis. Note posteromedial angulation of the distal diaphysis.
Fig. 8. Anterior view of the proximal right and left tibiae. The medial condyles are wedgeshaped, a characteristic deformity in bilateral genu varus condition.
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Fig. 9. Dorsal view of the left metatarsals and the first proximal phalanx. Note the slim appearance of the metatarsal diaphyses and enlarged bases. The heads of the second and third metatarsals are flattened and display osteoarthritic destruction. The fourth metatarsal is angulated and visibly shorter.
second to fifth metatarsals had a slim appearance and flared proximal epiphyses. The heads of the second and third metatarsals were flattened and showed moderate stages of degenerative changes that were also present in the proximal end of the first metatarsal. 3.2. Stature estimation The fragmentation and incompleteness of the long bones made it difficult to collect maximum length measurements for stature estimation. Effectively, only the abnormally proportioned left humerus and the radii provided useable data. The stature calculations based on the humerus [2.594(humm ) + 83.85] and the radii lengths [2.641(radm ) + 100.91] produced the values of 141 cm and 153 cm respectively, and the combined length of the humerus and radius [1.456(humm + radm ) + 83.76] gave a height of 144.5 cm. The three values were much lower than the mean living stature of the Old Kingdom males at Saqqara (Kaczmarek, 2008:486), being 168.7 cm for Whites and 164.4 cm for Negroes, as calculated using the regression formulae by Trotter and Glesser (1952). The belowmean values could suggest congenital short stature, but without the lengths of the lower limb bones, that are more accurate in stature estimation (Trotter and Glesser, 1958: 119–20), and with the stature value reduced by the disproportioned humerus, the stature estimation is considered inconclusive. 4. Discussion The skeletal findings in B.610 are characteristic of skeletal dysplasia. Rhizomelic limb shortening occurs in chondrodysplasia punctata, rhizomelic type, also characterised by brachymetacarpalia, most commonly involving the fourth metacarpals, but also by a typical facial appearance and skeletal dysplasia causing disproportionate somatic growth failure (Castriota-Scanderbeg and Dallapiccola, 2005:621–624; Spranger et al., 1974:7–9), not recorded in B.610. The deformities of the humeri and glenohumeral joints resemble features in humerus varus deformity (HVD) (Molto, 2000; Kacki et al., 2011). HVD can occur in mucopolysaccharidoses that are characterised by dysplastic changes to the skeleton (Spranger et al., 1974; Ortner, 2003:489–491), including a flat nasal bridge and short trunk,
features that were not observed in B.610. A single case of possible mucopolysaccharidosis with humeral involvement similar to B.610 has been reported in an Old Kingdom male from the same cemetery population in Saqqara (Kaczmarek, 2008:126). The skeletal findings in B.610 also differ from the features normally identified in skeletal dysplasias with predominantly metaphyseal involvement, such as achondroplasia. Achondroplastic individuals demonstrate a depressed nasal bridge, bulging forehead, thoraco-lumbar kyphosis, normal epiphyseal ossification (except in the knee region), short limbs and normal-length trunk (Castriota-Scanderbeg and Dallapiccola, 2005:582–587; Wynne-Davies et al., 1985:181–187). Similar short-limb dwarfism with marked metaphyseal involvement but with normal cranial morphology is manifested in pseudoachondroplasia (CastriotaScanderbeg and Dallapiccola, 2005:838–844; Spranger et al., 1974:124). In this condition, the tubular bones are shortened and have small and deformed epiphyses (brachydactyly in hands and feet), and the lower limbs show genu valgum or varum deformity. There is also scoliosis and lumbar lordosis of the spine, and flattening of the vertebral bodies. In B.610, however, only the humeri are disproportionately shortened, the hands and feet are normal except the BDE1 shortening, and the spinal involvement is restricted to the thoraco-lumbar scoliosis. Another diagnosis to be considered is spondyloepiphyseal dysplasia (SED) that involves primarily the vertebrae and epiphyseal centres of peripheral bones causing a short-trunk disproportionate dwarfism (Castriota-Scanderbeg and Dallapiccola, 2005; Chen, 2006:927–931; Spranger et al., 1974; Wynne-Davies et al., 1985; Yang et al., 2010). The two main types of SED, congenita (SEDC) and tarda (SEDT), differ in their severity, age of manifestation and mode of inheritance (Amirfeyz et al., 2005; Bannerman et al., 1971; Fraser et al., 1969; Pfeiffer et al., 1992; Schantz et al., 1988; Spranger et al., 1974:95–101; Wynne-Davies and Hall, 1982). Clinical findings in SEDC include shortened trunk, odontoid hypoplasia, thoracic kyphoscoliosis, lumbar lordosis, and genu valgum or varum (rare). None but the latter is found in B.610. In SEDT x-linked type, the vertebral bodies are flattened (platyspondyly) and display a characteristic posterior hump in the lateral view, features that are not present in B.610. In SEDT autosomal dominant or recessive type, the characteristic features are short-trunk stature (not found in B.610), frequent scoliosis, other deformities related to secondary osteoarthritis, and possible occurrence of brachydactyly (Reginato et al., 1994; Sybert et al., 1979; Tüysüz and Ungür, 2003; Wynne-Davies et al., 1985:104). The absence of changes in the preserved hand bones also discounts the possibility of the autosomal recessive type of SEDT with progressive arthropathy (SEDT-PA) (Kabaira et al., 1983; Kocyigit et al., 2000; Robinson et al., 1989; Wynne-Davies et al., 1982; Wynne-Davies et al., 1985:116–128). Only three possible cases of SED have been reported in human remains recovered from archaeological sites (Arcini and Frölund, 1996; Wakely, 2000), but none is known from ancient Egypt. The comparison of distribution of the skeletal abnormalities exhibited in B.610 to modern clinical cases (Table 2) leads to a most likely diagnosis of multiple epiphyseal dysplasia (MED) characterised by predominant involvement of the epiphyses and infrequent involvement of the spine restricted to the thoracolumbar region (scoliosis) (Castriota-Scanderbeg and Dallapiccola, 2005:767–771; Chen, 2006:697–699; Deere et al., 1995; Gamboa and Lisker, 1974; Spranger et al., 1974:10–11; Wynne-Davies et al., 1985:19–36). Individuals diagnosed with MED show normal or moderately short stature (close to 150 cm in adults) with normal body proportions, or mild short-limb dwarfism (Haga et al., 1998). In MED, the irregular epiphyseal growth affects a pair or many joints symmetrically forming flattened and dysplastic articular surfaces, and leading to early-onset osteoarthroses (Ingram,
v v v v v v v v v v v v v
v
v v
v v v
v
v v
v
205
1991; Miura et al., 2000) as seen in the glenohumeral (hatchet-head shoulder) and knee joints in B.610. The metaphyses of the tubular bones are normal but mild shortening can occur. In the mild (Ribbing) type, the wrists and hands are often normal, but shortening of the metacarpals and phalanges can occur due to premature fusion of the epiphyseal plates. Also characteristic in MED are Schmorl’s nodes in the spine and genu varum deformity, both features present in B.610. 5. Conclusions The skeletal remains of B.610, although incomplete and fragmented, provide clear evidence of disturbance of epiphyseal ossification that affected the individual. Based on the multiple abnormalities identified in B.610, it has been concluded that the individual most likely suffered from MED, a type of short-limb dwarfism. The condition is differentiated from SED, which includes major involvement of the spine and less frequent involvement of the limbs, and also from pseudoachondroplasia, which causes severe short-limb dwarfing with marked metaphyseal involvement. In modern populations, MED is one of the most commonly occurring skeletal dysplasias (Beighton, 1988; Wynne-Davies and Gormley, 1985). Only one possible case of MED is previously reported in ancient Egyptian skeletal material. The specimen dated to the Badarian period (4400–4000 BC) has been initially diagnosed as ‘a peculiar form of achondroplasia’ (Jones, 1932:569–572) due to the lack of typical achondroplastic cranial changes. MED has recently been suggested as a possible diagnosis (Kozma, 2008:3105–3106). B.610 is, therefore, most likely to be only the second case of MED reported in ancient Egyptian skeletal material. Based on the case of the Badarian specimen, there is a possibility that at least some of the over twenty cases of achondroplasia reported from ancient Egypt have been misidentified, in particular those cases with only single abnormal bones preserved. No other records of MED in archaeological skeletal material are currently known. Acknowledgements The author wishes to thank Prof. Karol My´sliwiec, Polish Academy of Sciences and Polish Centre of the Mediterranean Archaeology, for granting access to the human remains collection at the Polish-Egyptian excavation site at Saqqara. Research on the skeletal collection has been funded by the Leverhulme Trust (research grant F/00120/BU) and carried out at the KNH Centre for Biomedical Egyptology, University of Manchester. The author also wishes to thank Prof. Andrew Chamberlain, University of Sheffield, for his valuable assistance in identification of this congenital condition, as well as four anonymous reviewers for their informative comments and very useful suggestions for improvements on a previous version of this article.
Flattened/depressed nasal bridge Odontoid hypoplasia Shortened trunk Flattened vertebral bodies Thoraco-lumbar scoliosis Thoraco-lumbar kyphosis Rhizomelic limb shortening Humerus varus Genu varum Brachydactyly Secondary arthropathy
v
v v v v
v v
v
v v v v
v v v v v v
v v v v v
Spondyloepiphyseal Dysplasia-C Pseudoachondroplasia Achondroplasia Muccopolysaccharidosis Chondrodysplasia
Table 2 Occurrence of skeletal abnormalities in skeletal dysplasias and in B.610.
v
B.610 Spondyloepiphyseal Dysplasia-T
Multiple Epiphyseal Dysplasia
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Molto, J.E., 2000. Humerus varus deformity in Roman period burials from Kellis 2, Dakhleh, Egypt. Am. J. Phys. Anthropol. 113 (1), 103–109. Mundlos, S., 2009. The brachydactylies: a molecular disease family. Clin. Genet. 79, 123–136. My´sliwiec, K., Kuraszkiewicz, K., Czerwik, D., Rzeuska, T., Kaczmarek, M., Kowalska, A., Radomska, M., Godziejewski, Z., 2004. The Tomb of Merefnebef Saqqara I. Centre of the Mediterranean Archaeology of the Polish Academy of Sciences and NERITON, Warsaw. My´sliwiec, K. (Ed.), 2008. The Upper Necropolis, Saqqara III. Volumes I–II. Centre of the Mediterranean Archaeology of the Polish Academy of Sciences, Warsaw. My´sliwiec, K., Kuraszkiewicz, K. (Eds.), 2010. The Funerary Complex of Nyankhnefertem, Saqqara IV. Centre of the Mediterranean Archaeology of the Polish Academy of Sciences, Warsaw. Ortner, D.J., 2003. Identification of Pathological Conditions in Human Skeletal Remains, second ed. Smithsonian Institution: Academic Press, San Diego. Pfeiffer, R.A., Suess, J., Haagen, M., 1992. An autosomal recessive variant of spondyloepiphyseal dysplasia in three sibs. Pediatr. Radiol. 22, 83–86. Raxter, M.H., Ruff, C.B., Azab, A., Erfan, M., Soliman, M., El-Sawaf, A., 2008. Stature estimation in ancient Egyptians: a new technique based on the anatomical reconstruction of stature. Am. J. Phys. Anthropol. 136, 147–155. Reginato, A.J., Passano, G.M., Neumann, G., Falasca, G.F., Diaz-Valdez, M., Jimenez, S.A., Williams, C.J., 1994. Familial spondyepiphyseal dysplasia tarda, brachydactyly, and precocoious osteoarthritis with and arginine 75→ cysteine mutation in the procollagen type II gene in a kindred of Chloe Islanders. Arthritis Rheum. 37 (7), 1078–1086. Renander, A., 1945. Genu varum in children. Typical Roentegen picture. Acta Paediatr. 33 (1), 98–103. Robinson, D., Tieder, M., Halperin, N., Copeliovitch, L., 1989. Spondyloepiphyseal dysplasia associated with progressive arthropathy: an unusual disorder mimicking juvenile rheumatoid arthritis. Arch. Orthop. Trauma Surg. 108, 397–399. Schantz, K., Andersen Jr., P.E., Justesen, P., 1988. Spondyloepiphyseal dysplasia tarda: report of a family with autosomal dominant transmission. Acta Orthop. Scand. 59 (6), 716–719. Silverman, F.N., 1996. Reflections on epiphyseal dysplasias. Am. J. Roentgenol. 167, 835–842. Spranger, J.W., Langer, L.O., Wiedemann, H.-R., 1974. Bone dysplasias. An atlas of constitutional disorders of skeletal development. W.B. Saunders Company, Philadelphia. Sybert, V.P., Bryer, P.H., Hall, J.G., 1979. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal–spondyloperipheral dysplasia. Clin. Genet. 15, 160–166. Taylor, J.H., 2001. Death and the Afterlife in Ancient Egypt. The British Museum Press, London. Temtamy, S.A., Aglan, M.S., 2008. Brachydactyly. Orphanet J. Rare Dis. 3, 15–20. Trotter, M., Glesser, G.C., 1952. Estimation of stature from long bones of American Whites and Negroes. Am. J. Phys. Anthropol. 10 (4), 463–514. Trotter, M., Glesser, G.C., 1958. A re-evaluation of estimation of stature based on measurements of stature taken during life and of long bones after death. Am. J. Phys. Anthropol. 16 (1), 79–123. Tüysüz, B., Ungür, S., 2003. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? Am. J. Med. Genet. A 119A (3), 375–380. Wakely, J., 2000. Possible case of spondyloepiphyseal dysplasia in a medieval skeleton. Clin. Anat. 13, 11–16. Walker, P.L., Bathurst, R.R., Richman, R., Gjerdrum, T., Andrushko, V.A., 2009. The causes of porotic hyperostosis and cribra orbitalia: a reappraisal of the irondeficiency-anemia hypothesis. Am. J. Phys. Anthropol. 139, 109–125. White, T.D., Folkens, P.A., 1991. Human Osteology. Academic Press, Inc. Winter, R.M., Schroer, R.J., Meyer, L.C., 1993. Hands and feet. In: Stevenson, R.E., Hall, J.G., Goodman, R.M. (Eds.), Human Malformations, vol. 2. Oxford University Press, New York, pp. 828–843. Wynne-Davies, R., Gormley, J., 1985. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J. Bone Joint Surg. Br. 67B (1), 133–137. Wynne-Davies, R., Hall, C.M., 1982. Two clinical variants of spondylo-epiphysial dysplasia congenita. J. Bone Joint Surg. 64 B (4), 435–441. Wynne-Davies, R., Hall, C., Ansell, B.M., 1982. Spondylo-epiphysial dysplasia tarda with progressive arthropathy: a ‘new’ disorder of autosomal recessive inheritance. J. Bone Joint Surg. 64 B, 442–445. Wynne-Davies, R., Hall, C.M., Apley, A.G., 1985. Atlas of Skeletal Dysplasias. Longman Group Limited: Churchill Livingstone, Edinburgh. Yang, B., Lin, J., Jin, J., Weng, X., Zhao, Q., Qiu, G., 2010. A rare genetic disease—spondyloepiphyseal dysplasia. Chin. Med. J. 123 (19), 2727–2731.
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Case Study
Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report Iwona Kozieradzka-Ogunmakin ∗ KNH Centre for Biomedical Egyptology, Faculty of Life Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester, M13 9PT, United Kingdom
a r t i c l e
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Article history: Received 14 April 2011 Received in revised form 10 October 2011 Accepted 12 October 2011 Keywords: Multiple epiphyseal dysplasia Scoliosis, Brachydactyly, Genu varum, Osteoarthritis, Old Kingdom Egypt
a b s t r a c t The skeletal remains of a young adult male (aged 25–35 years) recovered from an Old Kingdom cemetery at Saqqara, Egypt, displayed multiple skeletal abnormalities in the limbs and vertebral column. These included bilateral shortening and robusticity of the humeri with flared distal metaphyses and exaggerated muscle attachments, early-onset osteoarthritic changes in the glenohumeral joints, thoraco-lumbar scoliosis, deformities of the proximal tibiae characteristic of a genu varum condition, angulation and shortening of the fourth metacarpal and metatarsal typical of brachydactyly type E1, and possible mild short stature. The condition has been diagnosed as multiple epiphyseal dysplasia (MED). This case of MED is possibly only the second example to be reported in skeletal material from ancient Egypt. No other reports of MED in archaeological material are currently known. © 2011 Elsevier Inc. All rights reserved.
1. Introduction Congenital diseases affecting the skeleton are rare findings in past populations, for their identification depends greatly on the preservation and completeness of human remains recovered from archaeological sites. In ancient Egypt, exceptional preservation of human remains was facilitated by the hot and dry desert environment chosen for inhumations, and was later enhanced by implementing a set of elaborate funerary practices that were developed over time (Taylor, 2001). The great effort expended over the preservation of the human body was religiously motivated, and aimed to keep the body complete in order for the deceased to achieve immortality in the afterlife. Hence, a respectable number of congenital cases, such as achondroplasia, are attested in ancient Egyptian skeletal material (Dasen, 1988; Dawson, 1938; El-Aguizy, 1987; Kozieradzka, 2006:266; Kozma, 2006, 2008). Achondroplasia is one of over 200 heterogeneous bone growth disorders with a genetic aetiology classified as skeletal dysplasias, and characterised by an abnormally shaped and sized skeleton and disproportion of the head, trunk and long bones (Aufderheide and Rodríguez-Martín, 2003:357–370; Bailey, 1973). Differential diagnosis in this group of disorders is based primarily on the location of abnormal bone growth in the skeleton, the severity of deformities, and on the presence/absence of additional features identified clinically or radiologically (Silverman, 1996; Spranger et al., 1974; Wynne-Davies et al., 1985). Skeletal dysplasias can demonstrate predominantly epiphyseal involvement (e.g., chondrodysplasia punctata, multiple epiphyseal dysplasia),
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predominantly metaphyseal involvement (e.g., achondroplasia), or major involvement of the spine (e.g., spondyloepiphyseal dysplasia, pseudoachondroplasia). This report presents a case of epiphyseal dysplasia identified among a group of 111 individuals unearthed at an ancient cemetery in Saqqara, Egypt. The cemetery was a burial ground for the local Memphite population during the Old Kingdom (2868–2181 BC) and the Late to Ptolemaic (664–30 BC) periods (My´sliwiec et al., 2004:37–38; My´sliwiec, 2008; My´sliwiec and Kuraszkiewicz, 2010). Burial 610 (B.610) that comprised the dysplastic human remains was dated to the Old Kingdom period based on its stratigraphic location and the type of interment. The body rested on its left-hand side in a flexed position and was placed in a rectangular reed coffin. Traces of interlocked fibres found adhering to the left side of the mandible indicate that the body may have been shrouded, or that the head rested on a piece of textile. The aim of this article is to describe the skeletal abnormalities observed on B.610 and to discuss the evidence for diagnosing the particular clinical disorder that underlies the observed changes. 2. Materials and methods 2.1. Preservation and completeness B.610 was found intact but the skeletal remains were damaged by a collapsed coffin lid that caused substantial postmortem fragmentation to the bone. Most severely affected were the right-side bones of the lower body that were crushed and, therefore, not available for examination. The skull, the vertebrae (C1-L5), and the upper body elements were satisfactorily preserved despite the fragmentation, and the only absent bones were the left carpals, the right fourth metacarpal, and the majority of the right and left
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phalanges. The lower segments of the sacrum and the pubic bones were not preserved, and the ilia and the ischial bones were very fragmentary. Also fragmented were the distal shaft of the left femur, the right tibial shaft, and the left distal tibia. The right femoral shaft and the left proximal femur, the proximal and distal fibulae, and the majority of the right foot bones were not preserved. 2.2. Examination methods The skeletal elements were photographed and examined visually on site. Age-at-death and sex estimations were determined by application of standard osteological methods based on the evaluation of physical and degenerative changes of the skeleton and dentition, and on the observation of morphological characteristics of the cranium and pelvis (Buikstra and Ubelaker, 1994). Fragmentation of the cranium and only partial preservation of the pelvis, however, made some of the observations difficult or impossible. The cranium and mandible exhibited typically masculine morphological features, except for the mastoid processes and nuchal area, and the sciatic notch of the pelvis was scored as ambiguous. Epiphyseal union of the skeletal elements was complete and no epiphyseal lines were visible. Degenerative changes of the auricular surfaces of the ilia corresponded with a Lovejoy et al. (1985) Phase 3 designation with an age range of 30–34. Also, early occlusal wear stages on the second and third molars and advanced wear on the second molars indicated a young adult aged 25–35 following Brothwell (1965:69) and Miles (1962). Overall, the individual was assessed to be a possible male aged 25–35 at death. The individual’s stature estimation based on the maximum length of the complete long bones was calculated using the regression formulae for ancient Egyptians created by Raxter et al. (2008). 3. Results 3.1. Findings Unlike the postcranial skeleton of B.610, the cranial bones exhibited no major morphological abnormalities on visual examination. Severe fragmentation of the skull restricted collection of craniometric data to the measurements of the upper facial height (nasion-prosthion), and the left orbital breadth and height (Table 1). The values of these measurements appeared normal and were comparable with the data collected on other Old Kingdom male
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specimens from the same cemetery (Kaczmarek, 2008:476). Evidence of possible nutritional stress was observed on the external surface of the occipital bone which showed changes characteristic of porotic hyperostosis, commonly associated with anemia (Walker et al., 2009). Also, multiple enamel hypoplastic lines indicating disrupted enamel growth, considered to be nonspecific indicators of stress (Goodman and Rose, 1990), were displayed on the anterior teeth. The cervical and the upper thoracic (T1-5) vertebrae demonstrated normal morphology, whereas the thoraco-lumbar spine displayed an abnormal scoliotic curvature resulting from the left lateral wedging of T10 to L3 (Fig. 1). This vertebral deformation is likely to have occurred in relation to other skeletal abnormalities that would have affected the individual’s posture, such as bow-leggedness (also identified in B.610). There was also a minimal right lateral wedging of L4, most probably compensatory to the superiorly located scoliotic curve. The lower thoracic and lumbar vertebrae displayed mild to moderate osteophytosis, porosity, and Schmorl’s nodes. The vertebral epiphyseal rings were normal, except for osteophytosis, and there was no visual reduction of height in the vertebral bodies. Scoliotic deformities in the thoracic spine are likely to have affected the morphology of the ribs (Kilgore and van Gerven, 2010; Ortner, 2003:468). In B.610, the left lower ribs showed slightly sharper than normal dorsal angles (Fig. 2) that were likely to have occurred due to the pressure applied to the rib bodies during the gradual progression of the scoliotic curve. Also, the bodies of the left seventh and eighth ribs showed evidence of healed trauma with callus formation at the fracture sites, and the articular surfaces on the heads of the right eleventh and twelfth ribs displayed severe degenerative changes (Fig. 3). On visual examination of the upper limb, the humeri presented gross abnormalities in shape and proportions, including minimal varus angulation of the upper diaphyses and bilateral shortening (Fig. 4). The shortening of the bones was confirmed by metric data which show the maximum length of the left humerus to have been almost 10 cm shorter than the mean maximum length of the bone in the Old Kingdom males from Saqqara (Table 1; Kaczmarek, 2008:483). The humeri were very robust with enlarged proximal and flared distal metaphyses, and flattened heads that formed enlarged articular surfaces that displayed mild porosity and marginal osteophytosis. The articulating glenoid fossae displayed similar, but more severe degenerative changes (Fig. 5). The muscle
Table 1 Comparison of cranial and postcranial metric data of B.10 with other Old Kingdom male individuals from Saqqaraa . Bone measurements (mm)
Cranial Upper facial height Orbital breadth Orbital height Postcranial Clavicle maximum length Humerus maximum length Humerus bicondylar width Humerus maximum mid-shaft diameter Humerus minimum shaft diameter Humerus least shaft circumference Radius maximum length Femur mid-shaft A–P diameter Femur mid-shaft M–L diameter Femur subtrochanteric A–P diameter Femur subtrochanteric M–L diameter Tibia bicondylar width Tibia A–P diameter at nutrient foramen Tibia M–L diameter at nutrient foramen a
B.610
Saqqara OK Males (Kaczmarek, 2008) n
Mean
74.5 40.5 34.5
3 3 3
70 38.7 33
144 220 52 22.5 18.5 55 195 24.5 14.3 28.3 18.2 61 17.8 20
2 3 3 – – – 2 – – – – 3 – –
137.5 318 50.5 – – – 239 – – – – 70.7 – –
OK – Old kingdom; n – number of individuals; A–P – anterior–posterior; M–L – medial-lateral; in B.10, all specimens except the clavicle are left-side bones.
Range 68–74 38–39 32–35 136–139 314–320 42–54 – – – 238–240 – – – – 68–74 – –
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Fig. 3. Inferior view of the right eleventh and twelfth ribs. The heads of the ribs display severe degenerative changes.
Fig. 1. Anterior view of the thoraco-lumbar spine (T10-L5). Note the scoliotic curve extending from the body of T10 to L3, and the right lateral wedging of the body of L4.
attachment sites on the humeri were pronounced with well defined margins and mounding, and showed moderate stress lesions. A similar prominence of the muscle attachment sites was seen on the radii and ulnae, especially on the left bones (Fig. 6). Unlike the humeri, the forearm bones exhibited normal size and proportions, although the maximum lengths of the radii (L = 19.5 cm; R = 19.9 cm) were approximately 4 cm shorter than the mean value in the Old Kingdom males from Saqqara (Table 1). As the bones’ proportions were normal, the sizes of the radii could be considered to fall within the normal variation in the population (White
Fig. 2. Superior view of the left lower ribs. Note angulation of the bodies and healed antemortem fracture with remodelled callus formation.
and Folkens, 1991:10–14). Hence in B.610, the disproportionate shortening affected only the proximal elements of the upper limbs. The lower limbs demonstrated different abnormalities. The left femur was of normal proportions, but its distal diaphysis presented an abnormal posteromedial angulation (Fig. 7). In the tibiae, the medial condyles were located more distally than normal, resulting in angulation of the tibial plateau (Fig. 8) characteristic of bilateral genu varum (bow-leggedness), a condition that involves the medial angulation of both femur and tibia (Levine and Drennan, 1982; Lim et al., 2008; Renander, 1945). The malalignment contributes to greater contact stresses on the medial tibiofemoral compartment that could accelerate osteoarthritic changes. In B.610, porotic lesions and mild marginal osteophytosis were present on the femoral condyles, corresponding to similar changes on the articular surfaces of the tibial condyles. The diaphyses of the tibiae and fibulae displayed normal proportions.
Fig. 4. Anterior view of the humeri. Note the abnormal shape, robust proportions and enlarged muscle attachment sites. The flattened heads form enlarged articular surfaces that display slight porosity and marginal osteophytes.
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Fig. 5. Lateral view of the right and left glenoid fossae of the scapulae. Both the elements display advanced stage of degenerative changes.
Several bones of the hands and feet exhibited abnormal shape and proportions. The left fourth metacarpal showed dorsal angulation and shortening, and similar size and shape abnormalities, were also present in the left fourth metatarsal (Fig. 9). The corresponding right-side bones were absent. Bone angulation could have resulted from a childhood trauma, whereas metacarpal/metatarsal shortening is likely to result from hypoplastic and partially fused epiphyses characteristic of brachydactyly (BD). BD may occur as an isolated dominant trait or as part of a syndrome (Mundlos, 2009:128), and can be manifested in a variety of patterns, depending on the elements of the hand/feet affected, and the severity of the shortening (Hortling et al., 1960; Temtamy and Aglan, 2008; Winter et al., 1993). The shortening of the metacarpals and/or metatarsals occurs in BD type E (BDE), with the fourth and fifth elements being most commonly affected. In B.610, the shortening being limited to the fourth metacarpal and metatarsal was characteristic of subtype E1 (Hertzog, 1968). Additionally in the feet, the diaphyses of the left
Fig. 6. Anterior view of the upper left limb elements. The forearm bones are of normal size and proportions compared with the abnormal proportions of the humerus. Note that the distal end of the radius is a separate fragment not shown.
Fig. 7. Medial view of the left femoral diaphysis. Note posteromedial angulation of the distal diaphysis.
Fig. 8. Anterior view of the proximal right and left tibiae. The medial condyles are wedgeshaped, a characteristic deformity in bilateral genu varus condition.
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Fig. 9. Dorsal view of the left metatarsals and the first proximal phalanx. Note the slim appearance of the metatarsal diaphyses and enlarged bases. The heads of the second and third metatarsals are flattened and display osteoarthritic destruction. The fourth metatarsal is angulated and visibly shorter.
second to fifth metatarsals had a slim appearance and flared proximal epiphyses. The heads of the second and third metatarsals were flattened and showed moderate stages of degenerative changes that were also present in the proximal end of the first metatarsal. 3.2. Stature estimation The fragmentation and incompleteness of the long bones made it difficult to collect maximum length measurements for stature estimation. Effectively, only the abnormally proportioned left humerus and the radii provided useable data. The stature calculations based on the humerus [2.594(humm ) + 83.85] and the radii lengths [2.641(radm ) + 100.91] produced the values of 141 cm and 153 cm respectively, and the combined length of the humerus and radius [1.456(humm + radm ) + 83.76] gave a height of 144.5 cm. The three values were much lower than the mean living stature of the Old Kingdom males at Saqqara (Kaczmarek, 2008:486), being 168.7 cm for Whites and 164.4 cm for Negroes, as calculated using the regression formulae by Trotter and Glesser (1952). The belowmean values could suggest congenital short stature, but without the lengths of the lower limb bones, that are more accurate in stature estimation (Trotter and Glesser, 1958: 119–20), and with the stature value reduced by the disproportioned humerus, the stature estimation is considered inconclusive. 4. Discussion The skeletal findings in B.610 are characteristic of skeletal dysplasia. Rhizomelic limb shortening occurs in chondrodysplasia punctata, rhizomelic type, also characterised by brachymetacarpalia, most commonly involving the fourth metacarpals, but also by a typical facial appearance and skeletal dysplasia causing disproportionate somatic growth failure (Castriota-Scanderbeg and Dallapiccola, 2005:621–624; Spranger et al., 1974:7–9), not recorded in B.610. The deformities of the humeri and glenohumeral joints resemble features in humerus varus deformity (HVD) (Molto, 2000; Kacki et al., 2011). HVD can occur in mucopolysaccharidoses that are characterised by dysplastic changes to the skeleton (Spranger et al., 1974; Ortner, 2003:489–491), including a flat nasal bridge and short trunk,
features that were not observed in B.610. A single case of possible mucopolysaccharidosis with humeral involvement similar to B.610 has been reported in an Old Kingdom male from the same cemetery population in Saqqara (Kaczmarek, 2008:126). The skeletal findings in B.610 also differ from the features normally identified in skeletal dysplasias with predominantly metaphyseal involvement, such as achondroplasia. Achondroplastic individuals demonstrate a depressed nasal bridge, bulging forehead, thoraco-lumbar kyphosis, normal epiphyseal ossification (except in the knee region), short limbs and normal-length trunk (Castriota-Scanderbeg and Dallapiccola, 2005:582–587; Wynne-Davies et al., 1985:181–187). Similar short-limb dwarfism with marked metaphyseal involvement but with normal cranial morphology is manifested in pseudoachondroplasia (CastriotaScanderbeg and Dallapiccola, 2005:838–844; Spranger et al., 1974:124). In this condition, the tubular bones are shortened and have small and deformed epiphyses (brachydactyly in hands and feet), and the lower limbs show genu valgum or varum deformity. There is also scoliosis and lumbar lordosis of the spine, and flattening of the vertebral bodies. In B.610, however, only the humeri are disproportionately shortened, the hands and feet are normal except the BDE1 shortening, and the spinal involvement is restricted to the thoraco-lumbar scoliosis. Another diagnosis to be considered is spondyloepiphyseal dysplasia (SED) that involves primarily the vertebrae and epiphyseal centres of peripheral bones causing a short-trunk disproportionate dwarfism (Castriota-Scanderbeg and Dallapiccola, 2005; Chen, 2006:927–931; Spranger et al., 1974; Wynne-Davies et al., 1985; Yang et al., 2010). The two main types of SED, congenita (SEDC) and tarda (SEDT), differ in their severity, age of manifestation and mode of inheritance (Amirfeyz et al., 2005; Bannerman et al., 1971; Fraser et al., 1969; Pfeiffer et al., 1992; Schantz et al., 1988; Spranger et al., 1974:95–101; Wynne-Davies and Hall, 1982). Clinical findings in SEDC include shortened trunk, odontoid hypoplasia, thoracic kyphoscoliosis, lumbar lordosis, and genu valgum or varum (rare). None but the latter is found in B.610. In SEDT x-linked type, the vertebral bodies are flattened (platyspondyly) and display a characteristic posterior hump in the lateral view, features that are not present in B.610. In SEDT autosomal dominant or recessive type, the characteristic features are short-trunk stature (not found in B.610), frequent scoliosis, other deformities related to secondary osteoarthritis, and possible occurrence of brachydactyly (Reginato et al., 1994; Sybert et al., 1979; Tüysüz and Ungür, 2003; Wynne-Davies et al., 1985:104). The absence of changes in the preserved hand bones also discounts the possibility of the autosomal recessive type of SEDT with progressive arthropathy (SEDT-PA) (Kabaira et al., 1983; Kocyigit et al., 2000; Robinson et al., 1989; Wynne-Davies et al., 1982; Wynne-Davies et al., 1985:116–128). Only three possible cases of SED have been reported in human remains recovered from archaeological sites (Arcini and Frölund, 1996; Wakely, 2000), but none is known from ancient Egypt. The comparison of distribution of the skeletal abnormalities exhibited in B.610 to modern clinical cases (Table 2) leads to a most likely diagnosis of multiple epiphyseal dysplasia (MED) characterised by predominant involvement of the epiphyses and infrequent involvement of the spine restricted to the thoracolumbar region (scoliosis) (Castriota-Scanderbeg and Dallapiccola, 2005:767–771; Chen, 2006:697–699; Deere et al., 1995; Gamboa and Lisker, 1974; Spranger et al., 1974:10–11; Wynne-Davies et al., 1985:19–36). Individuals diagnosed with MED show normal or moderately short stature (close to 150 cm in adults) with normal body proportions, or mild short-limb dwarfism (Haga et al., 1998). In MED, the irregular epiphyseal growth affects a pair or many joints symmetrically forming flattened and dysplastic articular surfaces, and leading to early-onset osteoarthroses (Ingram,
v v v v v v v v v v v v v
v
v v
v v v
v
v v
v
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1991; Miura et al., 2000) as seen in the glenohumeral (hatchet-head shoulder) and knee joints in B.610. The metaphyses of the tubular bones are normal but mild shortening can occur. In the mild (Ribbing) type, the wrists and hands are often normal, but shortening of the metacarpals and phalanges can occur due to premature fusion of the epiphyseal plates. Also characteristic in MED are Schmorl’s nodes in the spine and genu varum deformity, both features present in B.610. 5. Conclusions The skeletal remains of B.610, although incomplete and fragmented, provide clear evidence of disturbance of epiphyseal ossification that affected the individual. Based on the multiple abnormalities identified in B.610, it has been concluded that the individual most likely suffered from MED, a type of short-limb dwarfism. The condition is differentiated from SED, which includes major involvement of the spine and less frequent involvement of the limbs, and also from pseudoachondroplasia, which causes severe short-limb dwarfing with marked metaphyseal involvement. In modern populations, MED is one of the most commonly occurring skeletal dysplasias (Beighton, 1988; Wynne-Davies and Gormley, 1985). Only one possible case of MED is previously reported in ancient Egyptian skeletal material. The specimen dated to the Badarian period (4400–4000 BC) has been initially diagnosed as ‘a peculiar form of achondroplasia’ (Jones, 1932:569–572) due to the lack of typical achondroplastic cranial changes. MED has recently been suggested as a possible diagnosis (Kozma, 2008:3105–3106). B.610 is, therefore, most likely to be only the second case of MED reported in ancient Egyptian skeletal material. Based on the case of the Badarian specimen, there is a possibility that at least some of the over twenty cases of achondroplasia reported from ancient Egypt have been misidentified, in particular those cases with only single abnormal bones preserved. No other records of MED in archaeological skeletal material are currently known. Acknowledgements The author wishes to thank Prof. Karol My´sliwiec, Polish Academy of Sciences and Polish Centre of the Mediterranean Archaeology, for granting access to the human remains collection at the Polish-Egyptian excavation site at Saqqara. Research on the skeletal collection has been funded by the Leverhulme Trust (research grant F/00120/BU) and carried out at the KNH Centre for Biomedical Egyptology, University of Manchester. The author also wishes to thank Prof. Andrew Chamberlain, University of Sheffield, for his valuable assistance in identification of this congenital condition, as well as four anonymous reviewers for their informative comments and very useful suggestions for improvements on a previous version of this article.
Flattened/depressed nasal bridge Odontoid hypoplasia Shortened trunk Flattened vertebral bodies Thoraco-lumbar scoliosis Thoraco-lumbar kyphosis Rhizomelic limb shortening Humerus varus Genu varum Brachydactyly Secondary arthropathy
v
v v v v
v v
v
v v v v
v v v v v v
v v v v v
Spondyloepiphyseal Dysplasia-C Pseudoachondroplasia Achondroplasia Muccopolysaccharidosis Chondrodysplasia
Table 2 Occurrence of skeletal abnormalities in skeletal dysplasias and in B.610.
v
B.610 Spondyloepiphyseal Dysplasia-T
Multiple Epiphyseal Dysplasia
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