| Ophthalmo-acromelic syndrome in a Turkish infant: case report. | |
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MedLine Citation:
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PMID: 12643234 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Caksen; D Odabas; A F Oner; M Abuhandan; V Calebi |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: East African medical journal Volume: 79 ISSN: 0012-835X ISO Abbreviation: East Afr Med J Publication Date: 2002 Jun |
Date Detail:
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Created Date: 2003-03-17 Completed Date: 2003-04-04 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0372766 Medline TA: East Afr Med J Country: Kenya |
Other Details:
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Languages: eng Pagination: 339-40 Citation Subset: IM |
Affiliation:
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Yüzüncü Yil University, Faculty of Medicine, Van, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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epidemiology,
genetics*,
prevention & control Anophthalmos / epidemiology, genetics*, prevention & control Consanguinity Genes, Recessive Genetic Counseling Humans Incidence Infant, Newborn Male Parents / education Pedigree Rare Diseases / epidemiology, genetics*, prevention & control Toes / abnormalities* Turkey / epidemiology |
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