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

7Citations
Citations of this article
7Readers
Mendeley users who have this article in their library.

Abstract

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.

Cite

CITATION STYLE

APA

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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free