Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.
作者信息
Fayol Laurence, Garcia Patricia, Denis Danièle, Philip Nicole, Simeoni Umberto
机构信息
Faculté de Médecine, Université de la Méditerranée, Assistance Publique Hôpitaux de Marseille-Hôpital de La Conception, Département de Néonatologie, 147 boulevard Baille, 13-385 Marseille cedex 05, France.
出版信息
Am J Perinatol. 2006 Apr;23(3):197-200. doi: 10.1055/s-2006-934099. Epub 2006 Mar 29.
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.
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