48 Hallermann-Streiff Syndrome
HSS, François dyscephalic syndrome, oculo-mandibulo-dyscephaly syndrome
Proportionate short stature, hypotrichosis, frontal/
parietal bossing, small face, beaked nose, micro- gnathia, microphthalmia, congenital cataracts, natal teeth
Frequency: Relatively rare (more than 180 published cases).
Genetics
Virtually all cases sporadic; autosomal dominant suggested (OMIM 234100)
Clinical Features
• Proportionate short stature
• Variable mental abilities
• Hypotrichosis,scalp atrophy,prominent scalp veins
• Small face, bird-like facies, frontal/parietal boss- ing
• Sparse eyebrows and lashes, downward slanted palpebral fissures, microphthalmia, congenital cataract, nystagmus, strabismus, blue sclerae
• Long beaked nose, hypoplastic nasal cartilages, small nares
• Microstomia, natal teeth, hypodontia, malformed teeth, enamel dysplasia
• Micrognathia, double chin with central clefting or dimpling
• Low-set ears Differential Diagnosis
• Progeria
• Oculo-dento-osseous dysplasia
• Mandibulofacial dysostosis
• Wiedemann-Rautenstrauch syndrome
Radiographic Features Skull
• Mild microcephaly, brachycephaly
• Wide sutures, delayed closure of fontanels, wormi- an bones
• Frontal and parietal bossing, thin calvarium
• Hypoplasia of mandible with anterior displace- ment of temporomandibular joints, straight gonial angle
• Midface hypoplasia, prominent nasal bone, small orbits
• Platybasia
• Calcification of falx cerebri
• Shallow sella turcica
• Dental anomalies Limbs
• Gracile appearance of tubular bones
• Hip dislocation Generalized Bone Defects
• Osteoporosis Spine
• Vertebral anomalies
• Scoliosis, lordosis
• Platyspondyly
• Spina bifida Chest
• Winging of scapula
• Thin ribs and clavicles
• Pectus carinatum/excavatum
Bibliography
Christian CL, Lachman RS, Aylsworth AS, Fujimoto A, Gorlin RJ, Lipson MH, Graham JM. Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Am J Med Genet 1991; 41: 508–14 Cohen MM. Hallermann-Streiff syndrome: a review. Am J Med
Genet 1991; 41: 488–99
Dennis NR Fairhurst J, More IE. Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appear- ance, and cataracts, resembling Hallermann-Streiff syn- drome in two sibs. Am J Med Genet 1995; 59: 517–20 Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot-
ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Steele RW, Bass JW. Hallermann-Streiff syndrome: clinical and prognostic considerations. Am J Dis Child 1970; 120:
462–65 Hallermann-Streiff Syndrome
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Hallermann-Streiff Syndrome 723
H
a
c
b
Fig. 48.1 a–c. Patient 1 a at age 1 year, b at age 4 years, and c at age 11 years. Hypotrichosis, small bird-like face, sparse eye- brows and lashes, upward slanted palpebral fissures, strabis- mus, beaked nose, hypoplastic nasal cartilages, low-set rotat- ed ears. (Reprinted, with permission, from Mastroiacovo et al.
1990)
