Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.
Martinelli
P
P
Prenatal Diagnosis Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy.
Maruotti
G M
GM
Agangi
A
A
Mazzarelli
L L
LL
Bifulco
G
G
Paladini
D
D
D000328:Adult; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging; D005146:Facial Asymmetry / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*