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

Autor: Megier P; Department of Obstetrics and Gynaecology B, C.H.R., D'Orléans, France., Ayeva-Derman M, Esperandieu O, Aubry MC, Couly G, Desroches A
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 1998 Dec; Vol. 18 (12), pp. 1294-9.
Abstrakt: 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.
Databáze: MEDLINE