{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T11:16:25Z","timestamp":1774437385952,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8219,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteodysplasty (Melnick\u2010Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now been described in 24 individuals, with a predominance of females (21:3). We report an affected woman who gave birth to a male infant with omphalocele, hypoplastic kidneys, and the skeletal changes of this disorder; he died soon after birth. Histologic studies of the calvaria and long bones showed normal maturational sequences, but suggest that remodeling was not normal. This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. We suggest that the gene for the MNS may also cause a syndrome of multiple abnormalities that can be lethal and that this more severe phenotype in males may account for the altered sex ratio among reported cases. Both X\u2010linked dominant and autosomal\u2010dominant sex\u2010limited inheritance are feasible interpretations of the existing information.<\/jats:p>","DOI":"10.1002\/ajmg.1320130416","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:45:33Z","timestamp":1118537133000},"page":"453-463","source":"Crossref","is-referenced-by-count":35,"title":["Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick\u2010Needles syndrome)"],"prefix":"10.1002","volume":"13","author":[{"given":"Paul","family":"von Oeyen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lewis B.","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Trelstad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. 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