[Antenatal diagnosis of holoprosencephaly and its consequences. Apropos of 2 cases].
Cyclops represents the worst form of a rare malformation of the brain and face: holoprosencephaly. Two cases are reported, including one that was diagnosed at the 23rd week of pregnancy. Now, ultrasonography makes it possible to diagnose early; as soon as the 15th week of gestation. Ultrasound diagnosis is based on hypotelorism and anomalies of the mid-line, with or without facial abnormalities. The outcome is always poor. This malformation is associated with various conditions and a complete assessment, including the karyotype, morphologic studies of the fetus and of his family, and search for related minor facial dysmorphias (median labial or cleft palate with, with a single upper incisor) is mandatory. The condition recurs in 2 to 50% of cases depending on various associated conditions and on the family histories.
Nguyen Tan Lung
R
R
Départment Mère-Enfant, Centre Hospitalier Louise-Michel, Evry.
Blanchon
Y
Y
Ciraru-Vigneron
N
N
Rabbe
A
A
Sauvanet
E
E
Barrier
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
Le diagnostic anténatal de l'holoprosencéphalie et ses conséquences. A propos de 2 observations.