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Ophthalmo-acromelic syndrome in a Turkish infant: case report.
East Afr Med J. 2002 Jun; 79(6):339-40.EA

Abstract

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.

Authors+Show Affiliations

Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12643234

Citation

Caksen, H, et al. "Ophthalmo-acromelic Syndrome in a Turkish Infant: Case Report." East African Medical Journal, vol. 79, no. 6, 2002, pp. 339-40.
Caksen H, Odabas D, Oner AF, et al. Ophthalmo-acromelic syndrome in a Turkish infant: case report. East Afr Med J. 2002;79(6):339-40.
Caksen, H., Odabas, D., Oner, A. F., Abuhandan, M., & Calebi, V. (2002). Ophthalmo-acromelic syndrome in a Turkish infant: case report. East African Medical Journal, 79(6), 339-40.
Caksen H, et al. Ophthalmo-acromelic Syndrome in a Turkish Infant: Case Report. East Afr Med J. 2002;79(6):339-40. PubMed PMID: 12643234.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ophthalmo-acromelic syndrome in a Turkish infant: case report. AU - Caksen,H, AU - Odabas,D, AU - Oner,A F, AU - Abuhandan,M, AU - Calebi,V, PY - 2003/3/20/pubmed PY - 2003/4/5/medline PY - 2003/3/20/entrez SP - 339 EP - 40 JF - East African medical journal JO - East Afr Med J VL - 79 IS - 6 N2 - 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. SN - 0012-835X UR - https://www.unboundmedicine.com/medline/citation/12643234/Ophthalmo_acromelic_syndrome_in_a_Turkish_infant:_case_report_ L2 - https://medlineplus.gov/rarediseases.html DB - PRIME DP - Unbound Medicine ER -