Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review

INTRODUCTION: Most cases of caudal regression are sporadic or associated with gestational/maternal diabetes. The condition is thought to be part of a spectrum including imperforate anus, sacral agenesis and sirenomelia. Infants of diabetic mothers have two to three times the average incidence of con...

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Autores principales: Al Kaissi, Ali, Klaushofer, Klaus, Grill, Franz
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614953/
https://www.ncbi.nlm.nih.gov/pubmed/19099562
http://dx.doi.org/10.1186/1757-1626-1-407
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author Al Kaissi, Ali
Klaushofer, Klaus
Grill, Franz
author_facet Al Kaissi, Ali
Klaushofer, Klaus
Grill, Franz
author_sort Al Kaissi, Ali
collection PubMed
description INTRODUCTION: Most cases of caudal regression are sporadic or associated with gestational/maternal diabetes. The condition is thought to be part of a spectrum including imperforate anus, sacral agenesis and sirenomelia. Infants of diabetic mothers have two to three times the average incidence of congenital anomalies. CASE PRESENTATION: We report on a 7-year-old boy from non-consanguineous family in Austria was born with features of caudal regression syndrome. A constellation of malformation complex such as caudal regression syndrome and anorectal malformation complex were evident at birth. Of great interest was the abnormal articulation between the pelvis and the remaining abnormal spine. Spinal-pelvic instability, dislocation of the hip, and knee-flexion contracture associated with popliteal webbing were the major orthopaedic abnormalities. CONCLUSION: We showed that an offspring of a diabetic mother was at significant risk of developing caudal regression syndrome. Our present patient demonstrated type1 of Welch and Aterman classification. There was total sacral agenesis associated with subtotal lumbar agenesis. The lowest vertebrae were resting above an iliac amphiathrosis. We strongly encourage primary care providers to discuss the consequences of maternal diabetes mellitus as part of routine anticipatory guidance for antenatal/prenatal management. Careful diabetic control in the preconceptional period and the first eight weeks of pregnancy may lower the chances of congenital anomalies.
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spelling pubmed-26149532009-01-08 Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review Al Kaissi, Ali Klaushofer, Klaus Grill, Franz Cases J Case Report INTRODUCTION: Most cases of caudal regression are sporadic or associated with gestational/maternal diabetes. The condition is thought to be part of a spectrum including imperforate anus, sacral agenesis and sirenomelia. Infants of diabetic mothers have two to three times the average incidence of congenital anomalies. CASE PRESENTATION: We report on a 7-year-old boy from non-consanguineous family in Austria was born with features of caudal regression syndrome. A constellation of malformation complex such as caudal regression syndrome and anorectal malformation complex were evident at birth. Of great interest was the abnormal articulation between the pelvis and the remaining abnormal spine. Spinal-pelvic instability, dislocation of the hip, and knee-flexion contracture associated with popliteal webbing were the major orthopaedic abnormalities. CONCLUSION: We showed that an offspring of a diabetic mother was at significant risk of developing caudal regression syndrome. Our present patient demonstrated type1 of Welch and Aterman classification. There was total sacral agenesis associated with subtotal lumbar agenesis. The lowest vertebrae were resting above an iliac amphiathrosis. We strongly encourage primary care providers to discuss the consequences of maternal diabetes mellitus as part of routine anticipatory guidance for antenatal/prenatal management. Careful diabetic control in the preconceptional period and the first eight weeks of pregnancy may lower the chances of congenital anomalies. BioMed Central 2008-12-19 /pmc/articles/PMC2614953/ /pubmed/19099562 http://dx.doi.org/10.1186/1757-1626-1-407 Text en Copyright © 2008 Al Kaissi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Al Kaissi, Ali
Klaushofer, Klaus
Grill, Franz
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title_full Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title_fullStr Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title_full_unstemmed Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title_short Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
title_sort caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614953/
https://www.ncbi.nlm.nih.gov/pubmed/19099562
http://dx.doi.org/10.1186/1757-1626-1-407
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