74 Osteopathia Striata with Cranial Sclerosis O

Osteopathia Striata with Cranial Sclerosis 801

74 Osteopathia Striata with Cranial Sclerosis

OSCS, hyperostosis generalisata with striations, Differential Diagnosis Voorhoeve’s disease, isolated osteopathia striata • Osteopathia striata with familial dermopathy- included white forelock • Mixed sclerosing bone dysplasias Macrocephaly with frontal bossing, progressive cranial sclerosis, cranial nerve involvement, striation of Radiographic Features bones Generalized Bone Defects • Regular, linear striations of increased density, ver- Frequency: Rare (fewer than 50 published cases). tically oriented, extending from the metaphyses into the diaphyses of long bones (combed appear- Genetics ance) Autosomal dominant (OMIM 166500), with variable • Longitudinal areas of bone rarefaction inter- expressivity or, more commonly, X-linked dominant spersed between dense bands (OMIM 300373); gene locus mapped to Xp11. • Increased bone density in other bones (ribs, verte- brae, pelvis, carpal and tarsal bones) Clinical Features Skull • Macrocephaly, prominent forehead, biparietal • Markedly increased density of skull base, particu- bossing larly of petrous portions of temporal bones • Squared face, hypoplastic orbital ridges, hyper- • Hyperostosis of cranial vault telorism, broad nasal bridge • Hypoplastic paranasal sinuses and mastoids • Unerupted teeth, short roots • Late-closing anterior fontanel • Pierre-Robin sequence, cleft palate or bifid uvula Spine (40%) • Spondylolisthesis • Narrowed visual fields, facial nerve palsy, hearing • Spina bifida occulta loss, involvement of other cranial nerves • Scoliosis (uncommon) • Scoliosis Hands and Feet • Congenital heart defect (ventricular or atrial sep- • Syndactyly between 4th and 5th toes tal defects, pulmonic stenosis) • Postaxial polydactyly • CNS defects (brain atrophy, hypoplasia of corpus callosum, hydrocephalus) • Long fingers, clinodactyly, club foot • Mild to moderate mental retardation (20%)

Fig. 74.1. a Patient 1, young adult; b patient 2, adult. Note diffuse hyperostosis of the cranial vault, skull base and facial bones. Paranasal sinuses are poorly developed 802 Osteopathia Striata with Cranial Sclerosis

Fig. 74.2. a Patient 2, adult; b, c patient 3, young adult; d patient 1, young adult. Linear, vertically oriented bands of increased bone density extend from metaphyses into diaphyses of long bones, while sparing epiphyses. Iliac bone in a is diffusely sclerotic. Longitudinal areas of bone rarefaction alternate with sclerotic c d striations Osteopathia Striata with Cranial Sclerosis 803

Bibliography Nakamura K, Nakada Y, Nakada D. Unclassiﬁed sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, Bass HN, Weiner JR, Goldman A, Smith LE, Sparkes RS, Cran- metaphyseal undermodeling, and bone fragility. Am J Med dall BF.Osteopathia striata syndrome: clinical, genetic, and Genet 1998; 76: 389–94 radiologic considerations. Clin Pediatr 1980; 19: 369–73 Paling MR, Hyde I, Dennis NR. Osteopathia striata with sclero- Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M. sis and thickening of the skull. Br J Radiol 1981; 54: 344–8 Severe malformations in males from families with os- Pellegrino JE, McDonald-McGinn DM, Schneider A, Marko- teopathia striata with cranial sclerosis. Clin Genet 1998; 54: witz RI, Zackai EH. Further clinical delineation and in- 400–5 creased morbidity in males with osteopathia striata with Cortina H, Vallcanera A, Vidal J. Familial osteopathia striata cranial sclerosis: an X-linked disorder. Am J Med Genet with cranial condensation. Pediatr Radiol 1981; 11: 87–90 1997; 70: 159–65 Gorlin RJ. Craniotubular bone disorders. Pediatr Radiol 1994; Winter RM, Crawfurd M d’A, Meire HB, Mitchell N. Osteo- 24: 392–406 pathia striata with cranial sclerosis: highly variable expres- Lazar CM, Braunstein EM, Econs MJ. Clinical vignette: sion within a family including cleft palate in two neonatal osteopathia striata with cranial sclerosis. J Bone Miner Res cases. Clin Genet 1980; 18: 462–74 1999; 14: 152–3 Nakamura T, Yokomizo Y, Kand S, Harada T, Naruse T. Osteopathia striata with cranial sclerosis affecting three family members. Skeletal Radiol 1985; 14: 267–9