How to Cite this Article: Gerard M, Layet V, Costa T, Roumazeilles Y, Chenal P, Cailliez D, Gerard B. 2012. Sirenomelia and caudal malformations in two families. Am J Med Genet Part A. 158A:1801–1807.
Sirenomelia and caudal malformations in two families†
Version of Record online: 20 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1801–1807, July 2012
How to Cite
Gerard, M., Layet, V., Costa, T., Roumazeilles, Y., Chenal, P., Cailliez, D. and Gerard, B. (2012), Sirenomelia and caudal malformations in two families. Am. J. Med. Genet., 158A: 1801–1807. doi: 10.1002/ajmg.a.35408
- Issue online: 18 JUN 2012
- Version of Record online: 20 APR 2012
- Manuscript Accepted: 14 MAR 2012
- Manuscript Received: 22 AUG 2011
- fused legs;
- imperforate anus;
- blastogenesis defect
We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. © 2012 Wiley Periodicals, Inc.