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Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

✍ Scribed by Manouvrier, Sylvie; Moerman, Alexandre; Coeslier, Anne; Devisme, L.; Boute, Odile; Le Merrer, Martine

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 40 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k

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✦ Synopsis

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.

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