[Congenital anophthalmias: a case of trisomy 13].
Congenital anophthalmia is the result of a lack of development or regression of the primary optic vesicle in utero. It can be isolated or associated with other malformations and can be unilateral or, rarely, bilateral. Different etiologies are usually found such as chromosomal aberrations, gene mutations, toxic agents, and infections. We report a case of bilateral congenital anophthalmia in a setting of a polymalformative syndrome with microcephalia and bilateral lip cleft. Karyotype studies confirmed trisomy 13 known as Patau's syndrome. Trisomy 13 is a rare lethal chromosomal aberration frequently responsible for uni- or bilateral microphthalmia and occasionally for anophthalmia.
Kouassi
F X
FX
Service d'Ophtalmologie, CHU de Cocody, Abidjan, Côte-d'Ivoire. xavkouassi@yahoo.fr
Koffi
K V
KV
Safede
K
K
Cochard
C
C
Cochener
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000853:Anophthalmos / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002971:Cleft Lip / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy