Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Osteopathia striata mit kranialer Sklerose

OSCS (Osteopathia striata mit kranialer Sklerose) ist eine x-chromosomal kodominant Erkrankung, die durch Mutationen des AMER1-Gens hervorgerufen wird. Während die Erkrankung bei Jungen oft letal verläuft zeigen weibliche Anlageträger eine ausgeprägte Sklerose der Schädel und Röhrenknochen.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
AMER1
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]