Caksen H, Odabas D, Oner A F, Abuhandan M, Calebi V
Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.
East Afr Med J. 2002 Jun;79(6):339-40. doi: 10.4314/eamj.v79i6.8856.
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.
眼-肢端综合征（OAS）是一种极为罕见的常染色体隐性疾病，其特征为眼部畸形，范围从真性无眼到轻度小眼畸形，以及肢端畸形。在本文中，我们报告了一名患有OAS的新生儿，因其表现罕见。他是家中第四个患病的兄弟姐妹。父母身体健康，但父母之间有近亲血缘关系。体格检查发现双侧真性无眼以及足部多指畸形（双侧各四个脚趾）。他没有其他额外的异常情况。我们认为这种罕见综合征在我国可能相对更为常见，因为迄今为止英文文献中已报道了6例土耳其的OAS病例。
