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Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings
C Nur Semerci1, Neşe Onat, Sevil Günçe
1Department of Genetics, Zübeyde Hanm Maternity Hospital, Ankara, Turkey.
The Turkish Journal of Pediatrics
|October 31, 2002
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.