Sirenomelia and caudal malformations in two families
Identifieur interne : 000657 ( Main/Exploration ); précédent : 000656; suivant : 000658Sirenomelia and caudal malformations in two families
Auteurs : Marion Gerard [France] ; Valérie Layet [France] ; Teresa Costa [Canada] ; Yves Roumazeilles [France] ; Pierre Chenal [France] ; Daniel Cailliez [France] ; Bénédicte Gerard [France]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-07.
English descriptors
Abstract
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.
Url:
DOI: 10.1002/ajmg.a.35408
Affiliations:
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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.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li></country><region><li>Québec</li></region><settlement><li>Caen</li><li>Le Havre</li><li>Montréal</li><li>Paris</li><li>Strasbourg</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Gerard, Marion" sort="Gerard, Marion" uniqKey="Gerard M" first="Marion" last="Gerard">Marion Gerard</name></noRegion><name sortKey="Cailliez, Daniel" sort="Cailliez, Daniel" uniqKey="Cailliez D" first="Daniel" last="Cailliez">Daniel Cailliez</name><name sortKey="Chenal, Pierre" sort="Chenal, Pierre" uniqKey="Chenal P" first="Pierre" last="Chenal">Pierre Chenal</name><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name><name sortKey="Gerard, Marion" sort="Gerard, Marion" uniqKey="Gerard M" first="Marion" last="Gerard">Marion Gerard</name><name sortKey="Gerard, Marion" sort="Gerard, Marion" uniqKey="Gerard M" first="Marion" last="Gerard">Marion Gerard</name><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valérie" last="Layet">Valérie Layet</name><name sortKey="Roumazeilles, Yves" sort="Roumazeilles, Yves" uniqKey="Roumazeilles Y" first="Yves" last="Roumazeilles">Yves Roumazeilles</name></country><country name="Canada"><region name="Québec"><name sortKey="Costa, Teresa" sort="Costa, Teresa" uniqKey="Costa T" first="Teresa" last="Costa">Teresa Costa</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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