- Email: [email protected]
Cleidocranial dysplasia: A case report
Clinical Chiropractic (2010) 13, 275—279
www.elsevier.com/locate/clch
CASE REPORT
Cleidocranial dysplasia: A case report Newsha Azizi a,*, Terence Perrault b,1, Rosanne Gregory c,2 a
University of Bridgeport, 75 Linden Avenue, Room 310, Bridgeport, CT 06604, United States University of Bridgeport, 75 Linden Avenue, Room 213, Bridgeport, CT 06604, United States c South Windsor Neck and Back, LLC 1330 Sullivan Avenue, South Windsor, CT 06074, United States b
Received 20 November 2009; received in revised form 22 July 2010; accepted 30 September 2010
KEYWORDS Cleidocranial dysostosis; Dysplasia; Dental abnormality; Autosomal dominant; Mutation
Summary Cleidocranial dysplasia (CCD) is a very rare congenital malformation syndrome that has an extremely varied presentation. This condition not only affects the membranous bones (e.g., clavicles, skull, flat bones) but it also affects endochondral ossification, leading to a generalized disorder of the skeletal structures. Despite its global skeletal manifestations, CCD tends to cause the greatest abnormalities within the skull, spine and dentition of the individuals affected. This article reports on a rare case of cleidocranial dysplasia in an otherwise healthy 18-year-old female. # 2010 The College of Chiropractors. Published by Elsevier Ltd. All rights reserved.
Clinical presentation History An 18-year-old female college student presented with a complaint of low back pain and right leg pain and tingling, which had begun after a motor vehicle accident eight months prior to presentation. Her back pain was exacerbated by lifting, and with sitting or standing for extended periods of time. The patient was small in stature (40 800 /1.42 m), but
* Corresponding author. Tel.: +1 203 576 4436; fax: +1 203 576 4351. E-mail addresses: [email protected] (N. Azizi), [email protected] (T. Perrault). URL: http://www.functionforlife.com 1 Tel.: +1 203 576 4436; fax: +1 203 576 4351. 2 Tel.: +1 860 644 2437; fax: +1 860 644 8590.
was otherwise normal in appearance. Of incidental note, she reported having an extra row of teeth.
Clinical findings and examination The patient was neurologically intact. Hyperlordosis of the lumbosacral spine was noted. Restricted motion was detected at L5/S1, and bilaterally at the sacroiliac (SI) joints. Following physical examination of the patient, plain film radiographic images of the patient’s lumbar spine and pelvis were performed. The lateral view (not included) showed a mild (grade 1) anterolisthesis at L5, with bilateral spondylolysis of both pars interarticularis. A small posterior midline defect (spina bifida) was also detected at L5. The lumbopelvic view also demonstrated complete agenesis of the body of the pubii bilaterally with hypoplasia of both the superior and inferior pubic rami. These changes resulted in moderate widening of the symphysis pubis (Fig. 1).
1479-2354/$36.00 # 2010 The College of Chiropractors. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.clch.2010.09.002
[()TD$FIG]276
[()TD$FIG]
Figure 1 Anterior—posterior view of the lumbar spine demonstrating a spina bifida occulta at L5 (small black arrow) and agenesis of the body of the pubis bilaterally, resulting in widening of the symphysis pubis.
Figure 2 a. Anterior—posterior view of the pelvis and b. spot view of the pelvis indicating failure of fusion of the pubic rami anteriorly and a wide symphysis pubis (arrows).
The anterior—posterior view of the pelvis, as well as the spot view image, demonstrated a corticated, hypotrophic, ‘‘rounded off’’ superior and inferior pubic rami ending blindly near midline (Fig. 2). Widening of the symphysis pubis can be caused by many other conditions including hyperparathyroidism, epispadias, bladder extrophy, urogenital and anorectal anomalies; clinically, the patient demonstrated no evidence of these acquired conditions, and the smooth, corticated hypotrophic pubic rami suggested congenital/developmental abnormalities, and raised suspicion of cleidocranial dysplasia. Further questioning of the patient revealed a family history of the condition, which included her grandmother, mother, aunt and cousin. To pursue the suspicion of cleidocranial dysplasia, plain radiographic studies of the shoulders were performed (Fig. 3). The shoulder radiographs demonstrate the vestigeal right clavicle, which is hypoplastic and in multiple well-corticated assemblage. The right primordial clavicle does not appear to articulate with the right acromion or the sternum. The left clavicle is a single, moderately hypo-
N. Azizi et al.
plastic osseous entity. The left clavicle does appear to articulate with the sternum but results in a widened acromioclavicular joint at its distal end. Also apparent in the shoulder films is a narrowing of the upper thorax. The findings at the shoulders, in conjunction with the midline spine and pelvic abnormalities, confirmed the diagnosis of cleidocranial dysplasia (Fig. 4).
Treatment Upon presentation, the patient indicated that the low back pain was approximately a 7/10 on a visual analogue scale (VAS). Treatment included flexiondistraction adjustment technique to the lumbosacral region, and manual manipulation, in a posteroanterior direction, to the thoracic spine. Therapy included interferential electric current and moist heat to the lumbosacral region. The patient was treated three times a week for two weeks when a follow-up VAS recorded the pain as 0—1/10, at which time she was released to be treated ‘‘as needed’’.
[()TD$FIG]Cleidocranial dysplasia
277 Marie and Paul Sainton were the first to describe several cases of the disease and associate it with patterns of inheritance.2 In 1962, Kallialla suggested a genetic mutation as an etiology3; however, in that same year Forlan concluded that cleidocranial dysplasia was both an autosomal dominant inherited disease and a disease caused by mutation due to external interferences during fetal life.4
Overview
Figure 3 a. Anterior—posterior view of the clavicles demonstrating the absence of the middle aspect of the right clavicle (double sided arrow) and widened acromioclavicular joints bilaterally; b. tangential view of the clavicles showing the abnormalities of the right clavicle; the remaining portions of the right clavicle are severely hypoplastic.
[()TD$FIG]
Cleidocranial dysplasia is a rare condition with an incidence of one in one million births.5 To date, there are over 1000 cases reported in the literature.6 It has been, therefore, classified as a rare disease by the ORD (Office of Rare Diseases) of the National Institute of Health; however, owing to the lack of extensive medical complications, this condition is greatly under-diagnosed and underreported. Cleidocranial dysplasia appears to be present in all ethnicities with no gender predilection.7 It was initially believed that the process only affected intramembranous bone (i.e., flat bones, skull, clavicle, etc.) but is now known to affect endochondral ossification, hence leading to generalized skeletal disorders. The disease shows an autosomal dominant inheritance pattern but, in about 40% of cases, it appears to occur as a result of spontaneous mutations.8 The gene encoding for cleidocranial dysplasia has been isolated to the core binding factor-a 1 (CBFA1) located on the short arm of chromosome 6 (6p21).9 This gene encodes a transcription factor that activates osteoblast differentiation. In these individuals, various mutations of the gene have been detected including insertions, deletions, nonsense, and missense mutations.10,11
Clinical findings
Figure 4 Spot view of the right clavicle showing absence of the middle portion of the right clavicle (double sided arrow) and hypoplasia of the remaining parts.
Discussion History of cleidocranial dysplasia Cleidocranial dysplasia (dysostosis), also known as ‘Marie Sainton disease’ was first described in 1765 although, according to Soule, the first true case was not described until 1870 by Cutter.1 In 1889, Pierre
Although the entire skeleton is affected in cleidocranial dysplasia, the skull, clavicles, and dentition appear to demonstrate the greatest defects. In general, patients with this condition appear to be shorter than average, but are not classified as dwarfs. Individuals often demonstrate a brachycephalic skull with the face appearing very small with respect to the rest of the skull. The nasal bridge tends to be depressed, flat and broad. Frontal and parietal bossing is seen due either to delayed or complete failure of fusion of the sutures and fontanelles of the skull. Prognathisism and hypertelorism comprise some of the facial findings in individuals with cleidocranial dysplasia. In addition to the above appearance, patients also tend to have long necks with markedly narrowed and drooping shoulders. This presentation is
278 brought about partly as a result of the clavicular abnormalities including hypoplasia or absent clavicles. The muscles associated with the abnormal clavicles also tend to be underdeveloped; however, despite their appearance, these muscles do not show any sign of weakness compared with their normal-appearing counterparts. In addition, the clavicular abnormalities allow the shoulders to become extremely hypermobile and give the patient the ability to touch their shoulders together anteriorly. Orally, the palate tends to have a high arch and often there might be a cleft palate present. Dental abnormalities cause the greatest complications in patients with cleidocranial dysplasia and include short, peg-like teeth; erupted or impacted supernumerary teeth; impacted permanent teeth; and retained primary teeth.12
General radiographic presentations Although a wide variety of anomalies may be found in many of the bony structures, the osseous defects found on plain radiographs of patients with cleidocranial dysplasia chiefly involve the clavicles and the skull. Skeletally the patients tend to demonstrate midline defects including spina bifida occulta as well as a widened symphysis pubis secondary to the failure of fusion of the pubic rami anteriorly. In the extremities, the most marked changes appear in the hands where an accessory epiphysis at the base of the second metacarpal can occur, creating an elongated digit.13,14 The clavicles demonstrate varying degrees of hypoplasia and malformation. In about 10% of the cases the clavicles are either unilaterally or bilaterally absent.15 The clavicular deformities are coupled with a narrow coneshaped thorax demonstrated on chest radiographs. Plain film radiographic studies of the skull show patent fontanelles as well as open sutures with multiple wormian bones (small bones in the sutures of the skull that are formed by secondary ossification centers). The failure of sutures to fuse contributes to the brachycephaly resulting in a ‘lightbulb shaped’ skull on the posterior—anterior views. In some severe cases there might be very little formation of the frontal and parietal bones observed on plain radiographic studies. In addition, hypoplastic or absent maxillary and paranasal sinuses may be visualized on skull radiographs. As part of the midline defect, the mandibular symphysis remains open in 3% of adults and 64% of children.7 The mandible also demonstrates a coarsened trabecular pattern. Perhaps the most significant radiographic finding in the patient with cleidocranial dysplasia is the abnormal dentition. Panoramic radiographs of the
N. Azizi et al. oral cavity demonstrate supernumerary teeth which may or may not be impacted. The impacted supernumerary teeth tend to be present mostly at the anterior maxilla and usually develop, on average, approximately 4 years after the development of normal teeth.7 Multiple impacted or erupted permanent teeth and retention of primary teeth are amongst the other findings observed on imaging studies. Often the impacted teeth may develop dentigerous cysts, which are observed on plain radiographic images.
Management There are no particular treatments for the skull, clavicle, and other skeletal anomalies associated with cleidocranial dysplasia. Patients function well without any significant complications and lead relatively normal lives. The musculoskeletal problems that the patients may exhibit are treated with conventional methods such as chiropractic, physiotherapy, exercise, and over-the-counter pain medications. Management is mostly directed toward correction of the dental abnormalities. Treatment of dental abnormalities comprises extensive orthodontics and oral surgery procedures. These procedures include: maintaining the arch of the hard palate, extraction of the erupted supernumerary teeth, and treatment of the dentigerous cysts. At times, there might be a need for full mouth extraction of the abnormal teeth accompanied with replacement of these teeth with full mouth dentures or dental implants. In order to encourage impacted teeth to erupt, the oral surgeon may remove parts of the maxillary or mandibular bones overlaying the impacted teeth, thereby exposing the crown and ultimately aiding tooth eruption through orthodontics.
Differential diagnosis The differential diagnoses for cleidocranial dysplasia include Gardner’s syndrome (familial colorectal polyposis) and pycnodysostosis, both of which may present with supernumerary teeth.
Conclusion Cleidocranial dysplasia has been classified, by the ORD, as a rare, congenital condition involving clavicular, skull, and dental abnormalities. The relative lack of significant complications has caused this condition to be under-diagnosed and as a result under-reported. There are no specific treatments for the skeletal manifestations; instead management of
Cleidocranial dysplasia
279
this condition is mostly directed toward correcting the dental abnormalities. Although there have been no significant disability or skeletal complications reported in patients with cleidocranial dysplasia, in recent years, some authors have suggested that those with cleidocranial dysplasia may face previously unrecognized complications that are not present among their family members. These complications may include: scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, hearing loss, and genu valga. There also appears to be a higher rate of caesarean sections among the females with cleidocranial dysplasia compared to other family members. It has therefore been suggested that, aside from the dental management, these complications also be recognized and addressed by health care providers.9 Thus far, the management of individuals with cleidocranial dysostosis has been solely based on treatment of the dental abnormalities. However, in view of the musculoskeletal findings, the future direction for cleidocranial dysplasia should also include detection and better management of the various musculoskeletal complications associated with this dysplasia which until recently have gone unrecognized.
References 1. Soule Jr AB. Mutational dysostosis (Cleidocranial dysostosis). J Bone Joint Surg (Am) 1946;28(1):81—102.
2. Marie P, Sainton P. Sur la dysostose ceidocranienne he ´re ´ditaire. Rev Neur 1898;6:835—8. 3. Kallialla E, Taskinen PJ. Cleidocranial dysostosis. Oral Surg 1962;15(8):808—22. 4. Forlan M. Cleidocranial dysostosis. Am J Med 1962;33(2): 792—9. 5. Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J 2008;1(377):1—4. 6. Golan I, Baumert U, Hrala BP, Mu ¨Big D. Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systemic review. Detomaxillofac Radiol 2003;32(6):347—54. 7. Pharoah MJ, White SC. Oral radiology: principles and interpretation. 5th ed. Mosby; 2000. p. 646—9. 8. Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and maxillofacial pathology. 2nd ed. Saunders; 2002 . p. 537—9. 9. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Gen 2001; 104:1—6. 10. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, et al. Mutations involving the transcription factor cbfa1 cause cleidocranial dysplasia. Cell 1997;89: 773—9. 11. Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Gen 1999; 65:1268—78. 12. Woelfel JB, Scheid RC. Dental anatomy: its relevance to dentistry. 6th ed. Lippincott, Williams, and Wilkins; 2002 . p. 351. 13. Caffey J. Pediatric X-ray diagnosis. 7th ed. Chicago: Year Book Medical Publishers; 1978. 14. Yochum TR, Rowe LJ. Essentials of skeletal radiology. 2nd ed. Williams and Wilkins; 1996. p. 589—92. 15. Alves N, de Oliveira R. Cleidocranial dysplasia: a case report. Int J Morphol 2008;26(4):1065—8.
Available online at www.sciencedirect.com
www.elsevier.com/locate/clch
CASE REPORT
Cleidocranial dysplasia: A case report Newsha Azizi a,*, Terence Perrault b,1, Rosanne Gregory c,2 a
University of Bridgeport, 75 Linden Avenue, Room 310, Bridgeport, CT 06604, United States University of Bridgeport, 75 Linden Avenue, Room 213, Bridgeport, CT 06604, United States c South Windsor Neck and Back, LLC 1330 Sullivan Avenue, South Windsor, CT 06074, United States b
Received 20 November 2009; received in revised form 22 July 2010; accepted 30 September 2010
KEYWORDS Cleidocranial dysostosis; Dysplasia; Dental abnormality; Autosomal dominant; Mutation
Summary Cleidocranial dysplasia (CCD) is a very rare congenital malformation syndrome that has an extremely varied presentation. This condition not only affects the membranous bones (e.g., clavicles, skull, flat bones) but it also affects endochondral ossification, leading to a generalized disorder of the skeletal structures. Despite its global skeletal manifestations, CCD tends to cause the greatest abnormalities within the skull, spine and dentition of the individuals affected. This article reports on a rare case of cleidocranial dysplasia in an otherwise healthy 18-year-old female. # 2010 The College of Chiropractors. Published by Elsevier Ltd. All rights reserved.
Clinical presentation History An 18-year-old female college student presented with a complaint of low back pain and right leg pain and tingling, which had begun after a motor vehicle accident eight months prior to presentation. Her back pain was exacerbated by lifting, and with sitting or standing for extended periods of time. The patient was small in stature (40 800 /1.42 m), but
* Corresponding author. Tel.: +1 203 576 4436; fax: +1 203 576 4351. E-mail addresses: [email protected] (N. Azizi), [email protected] (T. Perrault). URL: http://www.functionforlife.com 1 Tel.: +1 203 576 4436; fax: +1 203 576 4351. 2 Tel.: +1 860 644 2437; fax: +1 860 644 8590.
was otherwise normal in appearance. Of incidental note, she reported having an extra row of teeth.
Clinical findings and examination The patient was neurologically intact. Hyperlordosis of the lumbosacral spine was noted. Restricted motion was detected at L5/S1, and bilaterally at the sacroiliac (SI) joints. Following physical examination of the patient, plain film radiographic images of the patient’s lumbar spine and pelvis were performed. The lateral view (not included) showed a mild (grade 1) anterolisthesis at L5, with bilateral spondylolysis of both pars interarticularis. A small posterior midline defect (spina bifida) was also detected at L5. The lumbopelvic view also demonstrated complete agenesis of the body of the pubii bilaterally with hypoplasia of both the superior and inferior pubic rami. These changes resulted in moderate widening of the symphysis pubis (Fig. 1).
1479-2354/$36.00 # 2010 The College of Chiropractors. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.clch.2010.09.002
[()TD$FIG]276
[()TD$FIG]
Figure 1 Anterior—posterior view of the lumbar spine demonstrating a spina bifida occulta at L5 (small black arrow) and agenesis of the body of the pubis bilaterally, resulting in widening of the symphysis pubis.
Figure 2 a. Anterior—posterior view of the pelvis and b. spot view of the pelvis indicating failure of fusion of the pubic rami anteriorly and a wide symphysis pubis (arrows).
The anterior—posterior view of the pelvis, as well as the spot view image, demonstrated a corticated, hypotrophic, ‘‘rounded off’’ superior and inferior pubic rami ending blindly near midline (Fig. 2). Widening of the symphysis pubis can be caused by many other conditions including hyperparathyroidism, epispadias, bladder extrophy, urogenital and anorectal anomalies; clinically, the patient demonstrated no evidence of these acquired conditions, and the smooth, corticated hypotrophic pubic rami suggested congenital/developmental abnormalities, and raised suspicion of cleidocranial dysplasia. Further questioning of the patient revealed a family history of the condition, which included her grandmother, mother, aunt and cousin. To pursue the suspicion of cleidocranial dysplasia, plain radiographic studies of the shoulders were performed (Fig. 3). The shoulder radiographs demonstrate the vestigeal right clavicle, which is hypoplastic and in multiple well-corticated assemblage. The right primordial clavicle does not appear to articulate with the right acromion or the sternum. The left clavicle is a single, moderately hypo-
N. Azizi et al.
plastic osseous entity. The left clavicle does appear to articulate with the sternum but results in a widened acromioclavicular joint at its distal end. Also apparent in the shoulder films is a narrowing of the upper thorax. The findings at the shoulders, in conjunction with the midline spine and pelvic abnormalities, confirmed the diagnosis of cleidocranial dysplasia (Fig. 4).
Treatment Upon presentation, the patient indicated that the low back pain was approximately a 7/10 on a visual analogue scale (VAS). Treatment included flexiondistraction adjustment technique to the lumbosacral region, and manual manipulation, in a posteroanterior direction, to the thoracic spine. Therapy included interferential electric current and moist heat to the lumbosacral region. The patient was treated three times a week for two weeks when a follow-up VAS recorded the pain as 0—1/10, at which time she was released to be treated ‘‘as needed’’.
[()TD$FIG]Cleidocranial dysplasia
277 Marie and Paul Sainton were the first to describe several cases of the disease and associate it with patterns of inheritance.2 In 1962, Kallialla suggested a genetic mutation as an etiology3; however, in that same year Forlan concluded that cleidocranial dysplasia was both an autosomal dominant inherited disease and a disease caused by mutation due to external interferences during fetal life.4
Overview
Figure 3 a. Anterior—posterior view of the clavicles demonstrating the absence of the middle aspect of the right clavicle (double sided arrow) and widened acromioclavicular joints bilaterally; b. tangential view of the clavicles showing the abnormalities of the right clavicle; the remaining portions of the right clavicle are severely hypoplastic.
[()TD$FIG]
Cleidocranial dysplasia is a rare condition with an incidence of one in one million births.5 To date, there are over 1000 cases reported in the literature.6 It has been, therefore, classified as a rare disease by the ORD (Office of Rare Diseases) of the National Institute of Health; however, owing to the lack of extensive medical complications, this condition is greatly under-diagnosed and underreported. Cleidocranial dysplasia appears to be present in all ethnicities with no gender predilection.7 It was initially believed that the process only affected intramembranous bone (i.e., flat bones, skull, clavicle, etc.) but is now known to affect endochondral ossification, hence leading to generalized skeletal disorders. The disease shows an autosomal dominant inheritance pattern but, in about 40% of cases, it appears to occur as a result of spontaneous mutations.8 The gene encoding for cleidocranial dysplasia has been isolated to the core binding factor-a 1 (CBFA1) located on the short arm of chromosome 6 (6p21).9 This gene encodes a transcription factor that activates osteoblast differentiation. In these individuals, various mutations of the gene have been detected including insertions, deletions, nonsense, and missense mutations.10,11
Clinical findings
Figure 4 Spot view of the right clavicle showing absence of the middle portion of the right clavicle (double sided arrow) and hypoplasia of the remaining parts.
Discussion History of cleidocranial dysplasia Cleidocranial dysplasia (dysostosis), also known as ‘Marie Sainton disease’ was first described in 1765 although, according to Soule, the first true case was not described until 1870 by Cutter.1 In 1889, Pierre
Although the entire skeleton is affected in cleidocranial dysplasia, the skull, clavicles, and dentition appear to demonstrate the greatest defects. In general, patients with this condition appear to be shorter than average, but are not classified as dwarfs. Individuals often demonstrate a brachycephalic skull with the face appearing very small with respect to the rest of the skull. The nasal bridge tends to be depressed, flat and broad. Frontal and parietal bossing is seen due either to delayed or complete failure of fusion of the sutures and fontanelles of the skull. Prognathisism and hypertelorism comprise some of the facial findings in individuals with cleidocranial dysplasia. In addition to the above appearance, patients also tend to have long necks with markedly narrowed and drooping shoulders. This presentation is
278 brought about partly as a result of the clavicular abnormalities including hypoplasia or absent clavicles. The muscles associated with the abnormal clavicles also tend to be underdeveloped; however, despite their appearance, these muscles do not show any sign of weakness compared with their normal-appearing counterparts. In addition, the clavicular abnormalities allow the shoulders to become extremely hypermobile and give the patient the ability to touch their shoulders together anteriorly. Orally, the palate tends to have a high arch and often there might be a cleft palate present. Dental abnormalities cause the greatest complications in patients with cleidocranial dysplasia and include short, peg-like teeth; erupted or impacted supernumerary teeth; impacted permanent teeth; and retained primary teeth.12
General radiographic presentations Although a wide variety of anomalies may be found in many of the bony structures, the osseous defects found on plain radiographs of patients with cleidocranial dysplasia chiefly involve the clavicles and the skull. Skeletally the patients tend to demonstrate midline defects including spina bifida occulta as well as a widened symphysis pubis secondary to the failure of fusion of the pubic rami anteriorly. In the extremities, the most marked changes appear in the hands where an accessory epiphysis at the base of the second metacarpal can occur, creating an elongated digit.13,14 The clavicles demonstrate varying degrees of hypoplasia and malformation. In about 10% of the cases the clavicles are either unilaterally or bilaterally absent.15 The clavicular deformities are coupled with a narrow coneshaped thorax demonstrated on chest radiographs. Plain film radiographic studies of the skull show patent fontanelles as well as open sutures with multiple wormian bones (small bones in the sutures of the skull that are formed by secondary ossification centers). The failure of sutures to fuse contributes to the brachycephaly resulting in a ‘lightbulb shaped’ skull on the posterior—anterior views. In some severe cases there might be very little formation of the frontal and parietal bones observed on plain radiographic studies. In addition, hypoplastic or absent maxillary and paranasal sinuses may be visualized on skull radiographs. As part of the midline defect, the mandibular symphysis remains open in 3% of adults and 64% of children.7 The mandible also demonstrates a coarsened trabecular pattern. Perhaps the most significant radiographic finding in the patient with cleidocranial dysplasia is the abnormal dentition. Panoramic radiographs of the
N. Azizi et al. oral cavity demonstrate supernumerary teeth which may or may not be impacted. The impacted supernumerary teeth tend to be present mostly at the anterior maxilla and usually develop, on average, approximately 4 years after the development of normal teeth.7 Multiple impacted or erupted permanent teeth and retention of primary teeth are amongst the other findings observed on imaging studies. Often the impacted teeth may develop dentigerous cysts, which are observed on plain radiographic images.
Management There are no particular treatments for the skull, clavicle, and other skeletal anomalies associated with cleidocranial dysplasia. Patients function well without any significant complications and lead relatively normal lives. The musculoskeletal problems that the patients may exhibit are treated with conventional methods such as chiropractic, physiotherapy, exercise, and over-the-counter pain medications. Management is mostly directed toward correction of the dental abnormalities. Treatment of dental abnormalities comprises extensive orthodontics and oral surgery procedures. These procedures include: maintaining the arch of the hard palate, extraction of the erupted supernumerary teeth, and treatment of the dentigerous cysts. At times, there might be a need for full mouth extraction of the abnormal teeth accompanied with replacement of these teeth with full mouth dentures or dental implants. In order to encourage impacted teeth to erupt, the oral surgeon may remove parts of the maxillary or mandibular bones overlaying the impacted teeth, thereby exposing the crown and ultimately aiding tooth eruption through orthodontics.
Differential diagnosis The differential diagnoses for cleidocranial dysplasia include Gardner’s syndrome (familial colorectal polyposis) and pycnodysostosis, both of which may present with supernumerary teeth.
Conclusion Cleidocranial dysplasia has been classified, by the ORD, as a rare, congenital condition involving clavicular, skull, and dental abnormalities. The relative lack of significant complications has caused this condition to be under-diagnosed and as a result under-reported. There are no specific treatments for the skeletal manifestations; instead management of
Cleidocranial dysplasia
279
this condition is mostly directed toward correcting the dental abnormalities. Although there have been no significant disability or skeletal complications reported in patients with cleidocranial dysplasia, in recent years, some authors have suggested that those with cleidocranial dysplasia may face previously unrecognized complications that are not present among their family members. These complications may include: scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, hearing loss, and genu valga. There also appears to be a higher rate of caesarean sections among the females with cleidocranial dysplasia compared to other family members. It has therefore been suggested that, aside from the dental management, these complications also be recognized and addressed by health care providers.9 Thus far, the management of individuals with cleidocranial dysostosis has been solely based on treatment of the dental abnormalities. However, in view of the musculoskeletal findings, the future direction for cleidocranial dysplasia should also include detection and better management of the various musculoskeletal complications associated with this dysplasia which until recently have gone unrecognized.
References 1. Soule Jr AB. Mutational dysostosis (Cleidocranial dysostosis). J Bone Joint Surg (Am) 1946;28(1):81—102.
2. Marie P, Sainton P. Sur la dysostose ceidocranienne he ´re ´ditaire. Rev Neur 1898;6:835—8. 3. Kallialla E, Taskinen PJ. Cleidocranial dysostosis. Oral Surg 1962;15(8):808—22. 4. Forlan M. Cleidocranial dysostosis. Am J Med 1962;33(2): 792—9. 5. Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J 2008;1(377):1—4. 6. Golan I, Baumert U, Hrala BP, Mu ¨Big D. Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systemic review. Detomaxillofac Radiol 2003;32(6):347—54. 7. Pharoah MJ, White SC. Oral radiology: principles and interpretation. 5th ed. Mosby; 2000. p. 646—9. 8. Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and maxillofacial pathology. 2nd ed. Saunders; 2002 . p. 537—9. 9. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Gen 2001; 104:1—6. 10. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, et al. Mutations involving the transcription factor cbfa1 cause cleidocranial dysplasia. Cell 1997;89: 773—9. 11. Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Gen 1999; 65:1268—78. 12. Woelfel JB, Scheid RC. Dental anatomy: its relevance to dentistry. 6th ed. Lippincott, Williams, and Wilkins; 2002 . p. 351. 13. Caffey J. Pediatric X-ray diagnosis. 7th ed. Chicago: Year Book Medical Publishers; 1978. 14. Yochum TR, Rowe LJ. Essentials of skeletal radiology. 2nd ed. Williams and Wilkins; 1996. p. 589—92. 15. Alves N, de Oliveira R. Cleidocranial dysplasia: a case report. Int J Morphol 2008;26(4):1065—8.
Available online at www.sciencedirect.com