Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings

We describe two cases of COFS (cerebro-oculo-facio-skeletal) syndrome in two newborn females of consanguineous parents. The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case...

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Bibliographic Details
Published in:	Turkish journal of pediatrics Vol. 44; no. 3; pp. 269 - 273
Main Authors:	Semerci, C Nur, Onat, Neşe, Günçe, Sevil, Demirel, Nihal, Yilmazer, Murat Becer Yanki, Oznur, Izlem, Türkyilmaz, Canan, Balci, Sevim
Format:	Journal Article
Language:	English
Published:	Turkey 01-07-2002
Subjects:	Abnormalities, Multiple - pathology Agenesis of Corpus Callosum Consanguinity Craniofacial Abnormalities - pathology Female Humans Infant, Newborn Lung - abnormalities Microcephaly Musculoskeletal Abnormalities - pathology Nipples - abnormalities Ribs - abnormalities Syndrome Turkey Turkey
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Summary:	We describe two cases of COFS (cerebro-oculo-facio-skeletal) syndrome in two newborn females of consanguineous parents. The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case 2), neither of which has been described in COFS syndrome previously. To our knowledge, these are the first reported cases of COFS syndrome from Turkey.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0041-4301