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The male phenotype in osteopathia striata congenita with cranial sclerosis
Author(s) -
Holman Sarah K.,
Daniel Phil,
Jenkins Zandra A.,
Herron Rachel L.,
Morgan Tim,
Savarirayan Ravi,
Chow C.W.,
Bohring Axel,
Mosel Annette,
Lacombe Didier,
Steiner Bernhard,
SchmittMechelke Thomas,
Schroter Barbara,
RaasRothschild Annick,
Miñaur Sixto Garcia,
Porteous Mary,
Parker Michael,
Quarrell Oliver,
Tapon Dagmar,
CormierDaire Valérie,
Mansour Sahar,
Nash Ruth,
Bindoff Laurence A.,
Fiskerstrand Torunn,
Robertson Stephen P.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34178
Subject(s) - macrocephaly , phenotype , skull , multiple sclerosis , pathology , craniofacial , biology , anatomy , medicine , genetics , immunology , gene
Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX . Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre‐ and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage. © 2011 Wiley‐Liss, Inc.