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

C Nur Semerci; Neşe Onat; Sevil Günçe; Nihal Demirel; Murat Becer Yanki Yilmazer; Izlem Oznur; Canan Türkyilmaz; Sevim Balci

Case Report

Turk J Pediatr 2002; 44(3): 269-273.

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

Authors

C Nur Semerci

Neşe Onat

Sevil Günçe

Nihal Demirel

Murat Becer Yanki Yilmazer

Izlem Oznur

Canan Türkyilmaz

Sevim Balci

Affiliations

Turk J Pediatr 2002; 44(3): 269-273.

Published: July 25, 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.

Copyright and license

Copyright © 2002 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

Semerci CN, Onat N, Günçe S, et al. Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. Turk J Pediatr 2002; 44: 269-273.