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Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case
Annales de Génétique 47 (2004) 387–391 www.elsevier.com/locate/anngen
Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case Vildan Ertekin a,*, Mukadder Ays¸e Selimog˘lu a, Erol Selimog˘lu b b
a Department of Pediatrics, School of Medicine, Atatürk University, Erzurum, Turkey Department of Otolaryngology, School of Medicine, Atatürk University, Erzurum, Turkey
Received 30 October 2003; accepted 25 March 2004 Available online 28 April 2004
Abstract The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius. © 2004 Elsevier SAS. All rights reserved. Keywords: Hallermann–Streiff syndrome; Oculomandibulodyscephaly; Fracture; Child
1. Introduction Hallermann–Streiff syndrome (HSS), or oculomandibulodyscephaly, is a rare congenital anomaly, characterized by dyscephaly with bird facies, frontal or parietal bossing, hypotrichosis of scalp, eyebrows and eyelashes, cutaneous atrophy of scalp and nose, mandibular hypoplasia, forward displacement of temporomandibular joints, high arched plate, small mouth, multiple dental anomalies and proportional short stature. Ophthalmic features are micropthalmia, congenital cataracts, blue sclera and nystagmus [1–3]. The described features of patients with HSS reported in literature are shown in Table 1 [1–10].
* Corresponding author. Osmangazi Mah, Gençtürk Dublex Evler, C blok, No. 26, Yildizkent 25200, Erzurum, Turkey. E-mail address: [email protected] (V. Ertekin). © 2004 Elsevier SAS. All rights reserved. doi:10.1016/j.anngen.2004.03.005
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V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
Table 1 Characteristic findings of patients with Hallermann–Streiff syndrome reported in literature and of the present case Congenital cataract Micropthalmia Nystagmus Strabismus Sparse eyelashes and eyebrows Intraocular hypertension Downslanting palpebral fissures Blue sclera Bilateral cryptorchidism Pinched nose High palate Mandibular hypoplasia Anterior displacement of the temporomandibular joint Deformity in sella tursica Degeneration in vitreus Atrophy of iris Frontal or parietal bossing Dental abnormalities/neonatal teeth Hypotrichosis Cutaneous atrophy Proportional short stature Brachycephaly Open sutures and fontanelles Syndactyly Scoliosis/lordosis Spina bifida Elevated scapula Fractures
Present case + + + – + – + + + + + + + + – – + + + – + + + – – – – +
2. Case report A 35-day-old boy was admitted to pediatrics department with the complaints of failure to thrive, neonatal teeth, and abnormal appearance. This was the fourth child of the family, and the other three children were healthy. There was no consanguinity between the parents. The length of gestation was 40 weeks. His history of natal and postnatal period was normal. His birth weight and height were not known. On examination his weight, height and head circumference were below third percentile. He had a bird-like face. The scull was brachycephalic with frontal bossing. The sutures were widely separated and fontanelles were large. Hypothricosis of eyebrows, micropthalmia, nystagmus, blue sclera, and downslanting palpebral fissures were noted (Fig. 1a,b). Three natal teeth, high arched palate, mandibular hypoplasia and low set ears were detected. His testicles were not in scrotum, they were palpated in inguinal canals. Other systemic findings were considered normal. Complete blood count, urinalysis, serum electrolytes, transaminases, albumin, calcium, phosphorus, alkaline phosphatase, parathyroid hormone, serum and urinary amino acid studies, immunoglobulin level and thyroid function tests were all normal.
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
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Fig. 1. (a and b) The characteristic Hallermann–Streiff syndrome appearance of picture.
Abdominal ultrasonography and eco cardiography were also normal. In pelvic ultrasonography, testicles were observed in inguinal canals. The long bones and metacarpals were thin and proximal of the left radius had a healing fracture despite no history of even minor trauma (Fig. 2). Although he had no any additional health problem other than malnutrition during the follow-up for 1 year, he died at 15th month of his life due aspiration pneumonia.
3. Discussion Hallermann–Streiff syndrome was first described in three cases, the first by Hallermann in 1948 and two more reported by Streiff in 1950 [1]. Steele et al. [3] summarized the clinical features of 50 cases reported in the literature. The patients show many abnormalities involving various systems. The etiology of this syndrome remains obscure. There is no
390
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
Fig. 2. Healing fracture of proximal part of the left radius.
sex predilation. In literature, although there are only few described cases of HSS with chromosomal abnormalities such as elongation of one of the arms of the 10th chromosome [8], most studies revealed normal chromosomal analysis. We have not performed chromosomal analysis in our case. The possibility arises that a single sporadic mutant gene is responsible [6,8,9,11]. Dennis et al. [11] presented two siblings with HSS; recurrence in siblings suggests the possibility of an autosomal recessive inheritance, or of a dominant mutation with parental mosaicism. The diagnostic criteria of Francois [2] are useful in the diagnosis of HSS: our case revealed all these abnormalities except cutaneous atrophy, additionally he had a healing fracture at the proximal of the left radius. Hypogenitalism has been reported in 10–12% [7–12]. Cryptorchidism, clitoral enlargement and hypospadias have also been documented [12]. Yüksel et al. [6] described unilateral anorchia with HSS syndrome as an additional finding. Our case had bilateral cryptorchidism. Dennis et al. [11] reported two siblings with intrauterine fractures, characteristic facial appearance, cataracts, resembling HSS. They have considered these cases as lethal form of HSS. To the best of our knowledge the only case report in literature revealing bone fracture in non-lethal form of HSS is of Russell et al.’s [3]. We think that our case is the second one presented with fractures who had the non-lethal form. Congenital fractures are also characteristic in osteogenesis imperfecta. The lethal varieties of osteogenesis imperfecta have broad thick bones with multiple fractures whereas the infant described here had
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
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notably slender bones [13]. Christian et al. [10] reported congenital fractures together with other findings of osteogenesis imperfecta such as blue sclera, delayed closure of the anterior fontanelle. But HSS is recognized by its distinctive facial appearance. Our case did not have blue sclera, either. Furthermore, anterior fontanelle of our case was detected closed on his ninth month visit. There was no doubt regarding the diagnosis of our patient, with particularly typical facial appearance of our patient associated with other findings. Verloes [14] described osteocraniostenosis as a new syndrome, which has similar features as HSS. The skeletal anomalies consisted of extremely thin, dense, easily fractured, and misshapen fishbone like diaphyses, flared metaphyses mild micromelic dwarfism of intrauterine onset, poorly mineralized cranial vault, and brachydactyly. The appearance of the hands with short tapering fingers, small to hypoplastic nails, distal phalanx hypoplasia, and short metacarpal I, seems one of the most important findings to distinguish osteocraniostenosis from HSS. In osteocraniostenosis, the typical thin, tapering, beaked and pinched nose with slit shaped nares and the impressive short mandible present in HSS is not seen [15]. For that reason, we do not think that our patient had osteocraniostenosis. Consequently, here we presented the second non-lethal HSS case with bone fracture in order to emphasize the probable association of this finding in the non-lethal form of HSS.
References [1] [2] [3] [4] [5] [6] [7] [8] [9] [10]
[11]
[12] [13] [14] [15]
K.L. Jones, Smith’s recognizable patterns of human malformation, fifth ed, WB Saunders Company, 1997. M.J. François, A new syndrome: dyscephalia with birth face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract, Arch. Ophthalmol 60 (1958) 842–862. R.W. Steele, J.W. Bass, Hallermann–Streiff syndrome. Clinical and prognostic considerations, Am. J. Dis. Child 120 (1970) 462–465. S. Balci, B. Say, Hallermann–Streiff syndrome (dyscephalia mandibulo-oculo-facialis), Turk. J. Pediatr 13 (1971) 165–172. E. Honda, T. Inoue, M. Domon, T. Sasaki, T. Uchida, Dental radiographic signs characteristic to Hallermann–Streiff syndrome, Oral. Surg. Oral. Med. Oral. Pathol 70 (1990) 121–125. B. Yüksel, G. Özer, M. Yilmaz, Hallermann–Streiff syndrome: a case report, Gazi. Med. J 6 (1995) 87–90. M.M. Cohen Jr, Hallermann–Streiff syndrome: a review, Am. J. Med. Genet 41 (1991) 488–499. D.J. Schanzlin, D.B. Goldberg, S.I. Brown, Hallermann–Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality, Am. J. Ophthalmol 90 (1980) 411–415. A.J. Malerman, M.M. Album, Hallermann–Streiff syndrome: report of case, ASDC. J. Dent. Child 53 (1986) 287–292. C.L. Christian, R.S. Lachman, A.S. Aylsworth, A. Fujimoto, R.J. Gorlin, M.H. Lipson, J.M. Graham Jr, Radiological findings in Hallermann–Streiff syndrome: report of five cases and a review of the literature, Am. J. Med. Genet 41 (1991) 508–514. N.R. Dennis, J. Fairhurst, I.E. Moore, Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann–Streiff syndrome in two sibs, Am. J. Med. Genet 59 (1995) 517–520. D. Barrucand, C. Benradi, J. Schmitt, Francois syndrome: apropos of two cases, Rev. Otoneuroophthalmol 50 (1978) 305–326. E.M. Thompson, I.D. Young, C.M. Hall, M.E. Thompson, E.M. Pembrey, I.D. Young, et al., Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta, J. Med. Genet 24 (1987) 390–405. A. Verloes, Osteocraniostenosis vs. severe Hallermann–Streiff–Francois syndrome, Am. J. Med. Genet 68 (1997) 105–107. N.R. Dennis, J. Fairhurst, Hallermann–Streiff syndrome and osteocraniostenosis, Am. J. Med. Genet 68 (1997) 108.
Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case Vildan Ertekin a,*, Mukadder Ays¸e Selimog˘lu a, Erol Selimog˘lu b b
a Department of Pediatrics, School of Medicine, Atatürk University, Erzurum, Turkey Department of Otolaryngology, School of Medicine, Atatürk University, Erzurum, Turkey
Received 30 October 2003; accepted 25 March 2004 Available online 28 April 2004
Abstract The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius. © 2004 Elsevier SAS. All rights reserved. Keywords: Hallermann–Streiff syndrome; Oculomandibulodyscephaly; Fracture; Child
1. Introduction Hallermann–Streiff syndrome (HSS), or oculomandibulodyscephaly, is a rare congenital anomaly, characterized by dyscephaly with bird facies, frontal or parietal bossing, hypotrichosis of scalp, eyebrows and eyelashes, cutaneous atrophy of scalp and nose, mandibular hypoplasia, forward displacement of temporomandibular joints, high arched plate, small mouth, multiple dental anomalies and proportional short stature. Ophthalmic features are micropthalmia, congenital cataracts, blue sclera and nystagmus [1–3]. The described features of patients with HSS reported in literature are shown in Table 1 [1–10].
* Corresponding author. Osmangazi Mah, Gençtürk Dublex Evler, C blok, No. 26, Yildizkent 25200, Erzurum, Turkey. E-mail address: [email protected] (V. Ertekin). © 2004 Elsevier SAS. All rights reserved. doi:10.1016/j.anngen.2004.03.005
388
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
Table 1 Characteristic findings of patients with Hallermann–Streiff syndrome reported in literature and of the present case Congenital cataract Micropthalmia Nystagmus Strabismus Sparse eyelashes and eyebrows Intraocular hypertension Downslanting palpebral fissures Blue sclera Bilateral cryptorchidism Pinched nose High palate Mandibular hypoplasia Anterior displacement of the temporomandibular joint Deformity in sella tursica Degeneration in vitreus Atrophy of iris Frontal or parietal bossing Dental abnormalities/neonatal teeth Hypotrichosis Cutaneous atrophy Proportional short stature Brachycephaly Open sutures and fontanelles Syndactyly Scoliosis/lordosis Spina bifida Elevated scapula Fractures
Present case + + + – + – + + + + + + + + – – + + + – + + + – – – – +
2. Case report A 35-day-old boy was admitted to pediatrics department with the complaints of failure to thrive, neonatal teeth, and abnormal appearance. This was the fourth child of the family, and the other three children were healthy. There was no consanguinity between the parents. The length of gestation was 40 weeks. His history of natal and postnatal period was normal. His birth weight and height were not known. On examination his weight, height and head circumference were below third percentile. He had a bird-like face. The scull was brachycephalic with frontal bossing. The sutures were widely separated and fontanelles were large. Hypothricosis of eyebrows, micropthalmia, nystagmus, blue sclera, and downslanting palpebral fissures were noted (Fig. 1a,b). Three natal teeth, high arched palate, mandibular hypoplasia and low set ears were detected. His testicles were not in scrotum, they were palpated in inguinal canals. Other systemic findings were considered normal. Complete blood count, urinalysis, serum electrolytes, transaminases, albumin, calcium, phosphorus, alkaline phosphatase, parathyroid hormone, serum and urinary amino acid studies, immunoglobulin level and thyroid function tests were all normal.
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
389
Fig. 1. (a and b) The characteristic Hallermann–Streiff syndrome appearance of picture.
Abdominal ultrasonography and eco cardiography were also normal. In pelvic ultrasonography, testicles were observed in inguinal canals. The long bones and metacarpals were thin and proximal of the left radius had a healing fracture despite no history of even minor trauma (Fig. 2). Although he had no any additional health problem other than malnutrition during the follow-up for 1 year, he died at 15th month of his life due aspiration pneumonia.
3. Discussion Hallermann–Streiff syndrome was first described in three cases, the first by Hallermann in 1948 and two more reported by Streiff in 1950 [1]. Steele et al. [3] summarized the clinical features of 50 cases reported in the literature. The patients show many abnormalities involving various systems. The etiology of this syndrome remains obscure. There is no
390
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
Fig. 2. Healing fracture of proximal part of the left radius.
sex predilation. In literature, although there are only few described cases of HSS with chromosomal abnormalities such as elongation of one of the arms of the 10th chromosome [8], most studies revealed normal chromosomal analysis. We have not performed chromosomal analysis in our case. The possibility arises that a single sporadic mutant gene is responsible [6,8,9,11]. Dennis et al. [11] presented two siblings with HSS; recurrence in siblings suggests the possibility of an autosomal recessive inheritance, or of a dominant mutation with parental mosaicism. The diagnostic criteria of Francois [2] are useful in the diagnosis of HSS: our case revealed all these abnormalities except cutaneous atrophy, additionally he had a healing fracture at the proximal of the left radius. Hypogenitalism has been reported in 10–12% [7–12]. Cryptorchidism, clitoral enlargement and hypospadias have also been documented [12]. Yüksel et al. [6] described unilateral anorchia with HSS syndrome as an additional finding. Our case had bilateral cryptorchidism. Dennis et al. [11] reported two siblings with intrauterine fractures, characteristic facial appearance, cataracts, resembling HSS. They have considered these cases as lethal form of HSS. To the best of our knowledge the only case report in literature revealing bone fracture in non-lethal form of HSS is of Russell et al.’s [3]. We think that our case is the second one presented with fractures who had the non-lethal form. Congenital fractures are also characteristic in osteogenesis imperfecta. The lethal varieties of osteogenesis imperfecta have broad thick bones with multiple fractures whereas the infant described here had
V. Ertekin et al. / Annales de Génétique 47 (2004) 387–391
391
notably slender bones [13]. Christian et al. [10] reported congenital fractures together with other findings of osteogenesis imperfecta such as blue sclera, delayed closure of the anterior fontanelle. But HSS is recognized by its distinctive facial appearance. Our case did not have blue sclera, either. Furthermore, anterior fontanelle of our case was detected closed on his ninth month visit. There was no doubt regarding the diagnosis of our patient, with particularly typical facial appearance of our patient associated with other findings. Verloes [14] described osteocraniostenosis as a new syndrome, which has similar features as HSS. The skeletal anomalies consisted of extremely thin, dense, easily fractured, and misshapen fishbone like diaphyses, flared metaphyses mild micromelic dwarfism of intrauterine onset, poorly mineralized cranial vault, and brachydactyly. The appearance of the hands with short tapering fingers, small to hypoplastic nails, distal phalanx hypoplasia, and short metacarpal I, seems one of the most important findings to distinguish osteocraniostenosis from HSS. In osteocraniostenosis, the typical thin, tapering, beaked and pinched nose with slit shaped nares and the impressive short mandible present in HSS is not seen [15]. For that reason, we do not think that our patient had osteocraniostenosis. Consequently, here we presented the second non-lethal HSS case with bone fracture in order to emphasize the probable association of this finding in the non-lethal form of HSS.
References [1] [2] [3] [4] [5] [6] [7] [8] [9] [10]
[11]
[12] [13] [14] [15]
K.L. Jones, Smith’s recognizable patterns of human malformation, fifth ed, WB Saunders Company, 1997. M.J. François, A new syndrome: dyscephalia with birth face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract, Arch. Ophthalmol 60 (1958) 842–862. R.W. Steele, J.W. Bass, Hallermann–Streiff syndrome. Clinical and prognostic considerations, Am. J. Dis. Child 120 (1970) 462–465. S. Balci, B. Say, Hallermann–Streiff syndrome (dyscephalia mandibulo-oculo-facialis), Turk. J. Pediatr 13 (1971) 165–172. E. Honda, T. Inoue, M. Domon, T. Sasaki, T. Uchida, Dental radiographic signs characteristic to Hallermann–Streiff syndrome, Oral. Surg. Oral. Med. Oral. Pathol 70 (1990) 121–125. B. Yüksel, G. Özer, M. Yilmaz, Hallermann–Streiff syndrome: a case report, Gazi. Med. J 6 (1995) 87–90. M.M. Cohen Jr, Hallermann–Streiff syndrome: a review, Am. J. Med. Genet 41 (1991) 488–499. D.J. Schanzlin, D.B. Goldberg, S.I. Brown, Hallermann–Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality, Am. J. Ophthalmol 90 (1980) 411–415. A.J. Malerman, M.M. Album, Hallermann–Streiff syndrome: report of case, ASDC. J. Dent. Child 53 (1986) 287–292. C.L. Christian, R.S. Lachman, A.S. Aylsworth, A. Fujimoto, R.J. Gorlin, M.H. Lipson, J.M. Graham Jr, Radiological findings in Hallermann–Streiff syndrome: report of five cases and a review of the literature, Am. J. Med. Genet 41 (1991) 508–514. N.R. Dennis, J. Fairhurst, I.E. Moore, Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann–Streiff syndrome in two sibs, Am. J. Med. Genet 59 (1995) 517–520. D. Barrucand, C. Benradi, J. Schmitt, Francois syndrome: apropos of two cases, Rev. Otoneuroophthalmol 50 (1978) 305–326. E.M. Thompson, I.D. Young, C.M. Hall, M.E. Thompson, E.M. Pembrey, I.D. Young, et al., Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta, J. Med. Genet 24 (1987) 390–405. A. Verloes, Osteocraniostenosis vs. severe Hallermann–Streiff–Francois syndrome, Am. J. Med. Genet 68 (1997) 105–107. N.R. Dennis, J. Fairhurst, Hallermann–Streiff syndrome and osteocraniostenosis, Am. J. Med. Genet 68 (1997) 108.