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. (C) 2000 Wiley-Leiss, Inc.
CITATION STYLE
Manouvrier, S., Moerman, A., Coeslier, A., Devisme, L., Boute, O., & Le Merrer, M. (2000). Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome? American Journal of Medical Genetics, 90(5), 351–355. https://doi.org/10.1002/(SICI)1096-8628(20000228)90:5<351::AID-AJMG1>3.0.CO;2-K
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