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 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.
Semerci
C Nur
CN
Department of Genetics, Zübeyde Hanm Maternity Hospital, Ankara, Turkey.
Onat
Neşe
N
Günçe
Sevil
S
Demirel
Nihal
N
Yilmazer
Murat Becer Yanki
MB
Oznur
Izlem
I
Türkyilmaz
Canan
C
Balci
Sevim
S
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