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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\u2010 and postnatal lethality. The recent description of mutations in <jats:italic>WTX<\/jats:italic> 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 <jats:italic>WTX<\/jats:italic> 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. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34178","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T16:11:41Z","timestamp":1313511101000},"page":"2397-2408","source":"Crossref","is-referenced-by-count":33,"title":["The male phenotype in osteopathia striata congenita with cranial sclerosis"],"prefix":"10.1002","volume":"155","author":[{"given":"Sarah K.","family":"Holman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phil","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zandra 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