Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detai...

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Detalhes bibliográficos
Publicado no:Case Rep Obstet Gynecol
Main Authors: Fontanella, F., van Maarle, M. C., Robles de Medina, P., Oostra, R. J., van Rijn, R. R., Pajkrt, E., Bilardo, C. M.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5220407/
https://ncbi.nlm.nih.gov/pubmed/28116192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/7625341
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