Anophtalmies congénitales : à propos d’un cas de trisomie 13

Hereditary congenital anophthalmia:3 cases of children of the same family

“…Thus, for Verna [8], both anophthalmia and microphthalmia may occur in isolation or be integrated into a syndrome of Patau (trisomy13) or other syndromes in about one third of the cases. Kouassi [9] also reported a case of bilateral congenital anophthalmia during the syndrome of Patau. So does Diomandé [10] in Bouaké who reported a case of a real congenital anophthalmia associated with severe microphthalmia in a newborn without any other observed clinical abnormalities.…”

Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity

“…13 However, heritable factors are thought to underlie the majority of MAC cases with an approximately 10% sibling recurrence risk identified in a large population based study. 5 The spectrum of genetic anomalies includes: karyotypically-visible chromosomal abnormalities (eg trisomy 13 19 and 18 20 being the most frequently observed), smaller copy number variations, as well as gene mutation, 8 and at the present time the genetic basis of ~15-20% of MAC cases has been identified.…”