KADER ERYAVUZ, ALİ ÇELİK, SEYHAN ÖZCAN, AHMET ERK, EKREM ÖZAKIN
Gynecology Obstetrics & Reproductive Medicine - 2004;10(1):60-61
Neu-Laxova is a rare congenital abnormality involving multiple organs. The syndrome was first described by Neu et all in 1971. Since than more than 40 case have been reported. We report a case with anophtalmia which is rare. The specific ophtalmic feature of this syndrome is exophtalmic eyes with absend eyelids. This syndrome has an autosomal recessive inheritance. Anophtalmia in this case may be primary and hereditary. Because according the parents, one of their daughters had anophtalmos and one of the mother's brother had congenital blindness. Anophtalmia also can be secondary, associated with underdevelopment of the forebrain. The current syndrome also is associated with brain underdevelopment (microcephaly, lissencephaly, absence of the corpus callosum and cerebrum).
