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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Published inTurkish 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
LanguageEnglish
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
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ISSN:0041-4301