Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Osteopathia striata with cranial sclerosis

OSCS (Osteopathia striata with cranial sclerosis) is an x-linked codominat disorder caused by AMER1 mutations. While the disorder is lethal in young boys. It is characterized by sclerosis of the skull and long bones in females. Learning disabilities may ensue.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
AMER1
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Jenkins ZA et al. (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

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2.

Perdu B et al. (2010) Osteopathia striata with cranial sclerosis owing to WTX gene defect.

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3.

Perdu B et al. (2011) Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

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4.

Holman SK et al. (2011) The male phenotype in osteopathia striata congenita with cranial sclerosis.

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5.

König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

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6.

Keymolen K et al. (1997) How to counsel in osteopathia striata with cranial sclerosis.

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7.

Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

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8.

Behninger C et al. (2000) Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.

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9.

Viot G et al. (2002) Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

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10.

RUCKER TN et al. (1964) A RARE FAMILIAL SYSTEMIC AFFECTION OF THE SKELETON: FAIRBANK'S DISEASE.

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11.

Rott HD et al. (2003) Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).

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12.

Ward LM et al. (2004) Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl.

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13.

Kornreich L et al. (1988) Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.

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14.

Nakamura T et al. (1985) Osteopathia striata with cranial sclerosis affecting three family members.

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15.

Jones MD et al. (1968) Osteopathia striata, osteopetrosis, and impaired hearing. A case report.

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16.

Horan FT et al. (1978) Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

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17.

Bass HN et al. (1980) Osteopathia striata syndrome. Clinical, genetic and radiologic considerations.

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18.

Winter RM et al. (1980) Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

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19.

Paling MR et al. (1981) Osteopathia striata with sclerosis and thickening of the skull.

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20.

Whyte MP et al. (1980) Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata.

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21.

Clementi M et al. (1993) Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

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22.

Pellegrino JE et al. (1997) Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

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23.

Nakamura K et al. (1998) Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility.

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24.

Bueno AL et al. (1998) Severe malformations in males from families with osteopathia striata with cranial sclerosis.

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25.

Lazar CM et al. (1999) Clinical vignette: osteopathia striata with cranial sclerosis.

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26.

OMIM.ORG article

Omim 300373 [^]
Update: April 29, 2019