Ophthalmo-acromelic syndrome in a Turkish infant: case report.
Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. Physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date.
Caksen
H
H
Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.
Odabas
D
D
Oner
A F
AF
Abuhandan
M
M
Calebi
V
V
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D000853:Anophthalmos / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D003241:Consanguinity; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D010290:Parents / Q000193:education; D010375:Pedigree; D035583:Rare Diseases / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D014034:Toes / Q000002:abnormalities*; D014421:Turkey / Q000453:epidemiology