Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: Case report and review of the literature

Citation
P. Megier et al., Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: Case report and review of the literature, PRENAT DIAG, 18(12), 1998, pp. 1294-1299
Citations number
30
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
18
Issue
12
Year of publication
1998
Pages
1294 - 1299
Database
ISI
SICI code
0197-3851(199812)18:12<1294:PUDOTC>2.0.ZU;2-H
Abstract
We present an antenatal ultrasonographic diagnosis of the cerebro-costo-man dibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) ma inly associates defective costal development with features of the Pierre-Ro bin syndrome. The diagnosis is very often made at birth and the prognosis i s very poor. Antenatal ultrasound examination may show a combination of oro facial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks. Copyright (C) 1998 John Wiley & Sons, Ltd.