Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature.
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.
Megier
P
P
Department of Obstetrics and Gynaecology B, C.H.R., D'Orléans, France.
Ayeva-Derman
M
M
Esperandieu
O
O
Aubry
M C
MC
Couly
G
G
Desroches
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D008334:Mandible / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D016216:Ultrasonography, Prenatal