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Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature

✍ Scribed by Pascal Megier; Michael Ayeva-Derman; Olga Esperandieu; Marie-Cecile Aubry; Gerard Couly; Alain Desroches

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
188 KB
Volume
18
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial 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.

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