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Am J Perinatol 2006; 23(3): 197-200
DOI: 10.1055/s-2006-934099
Copyright © 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Adams-Oliver Syndrome Associated with Cutis Marmorata Telangiectatica Congenita and Congenital Cataract: A Case Report

Laurence Fayol1 , Patricia Garcia1 , Danièle Denis2 , Nicole Philip3 , Umberto Simeoni1
  • 1Faculté de Médecine, Université de la Méditerranée, Assistance Publique Hôpitaux de Marseille-Hôpital de La Conception, Département de Néonatologie, Marseille, France
  • 2Assistance Publique Hôpitaux de Marseille-Hôpital Nord, Département d'Ophtalmologie, Marseille, France
  • 3Assistance Publique Hôpitaux de Marseille-Hôpital de La Timone, Département de Génétique Médicale, Marseille, France
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Publikationsdatum:
29. März 2006 (online)

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ABSTRACT

A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

KEYWORDS

Adams-Oliver syndrome - cutis marmorata telangiectatica congenital - congenital cataract

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Umberto SimeoniM.D. 

Assistance Publique Hôpitaux de Marseille-Hôpital de La Conception, Département de Néonatologie

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