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
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.