{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:43Z","timestamp":1786976803977,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,5]],"date-time":"2002-12-05T00:00:00Z","timestamp":1039046400000},"content-version":"vor","delay-in-days":338,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Osteopathia striata with cranial sclerosis (OS\u2010CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS\u2010CS, including two sporadic cases and three families, with an excess of affected females (9F\/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X\u2010inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non\u2010random X\u2010inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X\u2010linked dominant inheritance. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10028","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T12:35:44Z","timestamp":1030278944000},"page":"1-4","source":"Crossref","is-referenced-by-count":36,"title":["Osteopathia striata cranial sclerosis: Non\u2010random X\u2010inactivation suggestive of X\u2010linked dominant inheritance"],"prefix":"10.1002","volume":"107","author":[{"given":"G\u00e9raldine","family":"Viot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"de 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