title: Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings.
abstract: 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.
authors.affiliation: Department of Genetics, Zübeyde Hanm Maternity Hospital, Ankara, Turkey.
authors.forename: C Nur
authors.initials: CN
authors.lastname: Semerci
authors.forename: Neşe
authors.initials: N
authors.lastname: Onat
authors.forename: Sevil
authors.initials: S
authors.lastname: Günçe
authors.forename: Nihal
authors.initials: N
authors.lastname: Demirel
authors.forename: Murat Becer Yanki
authors.initials: MB
authors.lastname: Yilmazer
authors.forename: Izlem
authors.initials: I
authors.lastname: Oznur
authors.forename: Canan
authors.initials: C
authors.lastname: Türkyilmaz
authors.forename: Sevim
authors.initials: S
authors.lastname: Balci
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008831:Microcephaly; D009139:Musculoskeletal Abnormalities / Q000473:pathology; D009558:Nipples / Q000002:abnormalities; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome; D014421:Turkey