Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.
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.
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.
Laurence
L
Fayol
Patricia
P
Garcia
Danièle
D
Denis
Nicole
N
Philip
Umberto
U
Simeoni
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D000328:Adult; D002386:Cataract / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology; D006331:Heart Diseases / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome; D013684:Telangiectasis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D016216:Ultrasonography, Prenatal