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Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature
Author(s) -
Megier Pascal,
AyevaDerman Michael,
Esperandieu Olga,
Aubry MarieCecile,
Couly Gerard,
Desroches Alain
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199812)18:12<1294::aid-pd433>3.0.co;2-x
Subject(s) - maldevelopment , medicine , prenatal diagnosis , ultrasound , gestation , pregnancy , conjoined twins , prenatal ultrasound , obstetrics , pediatrics , fetus , radiology , anatomy , biology , genetics
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. Copyright © 1998 John Wiley & Sons, Ltd.