Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post-mortem examination followed pregnancy termination and confirmed the diagnosis of oculo-auriculo-vertebral spectrum (OAVS). To delineate the pattern of prenatal features in OAVS, we reviewed 20 published fetuses showing abnormal US and/or magnetic resonance imaging. Gestational age at diagnosis ranged from 14 to 34-35 weeks. Cephalic abnormalities were found in only 52.4% (i.e., micro/anophthalmia, ear anomalies, hemifacial microsomia, and facial cleft). CNS defects occurred in 47.6% (i.e., hydrocephalus, occipital encephalocele, cerebellar hemisphere/vermis hypoplasia, and lipoma of the corpus callosum), together with abnormal amniotic fluid volume (AFV), either poly- or oligohydramnios. Nineteen percent had congenital heart disease, mainly atrioventricular septal defect. Hydroureteronephrosis, radial aplasia, lung, and kidney agenesis were additional findings. Recurrent patterns of anomalies included multiple asymmetric facial lesions (i.e., hemifacial microsomia, ipsilateral micro/anophthalmia, malformed ear) and CNS (particularly hydrocephalus) plus AFV abnormalities. In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition.
Castori
Marco
M
IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
Brancati
Francesco
F
Rinaldi
Rosanna
R
Adami
Loredana
L
Mingarelli
Rita
R
Grammatico
Paola
P
Dallapiccola
Bruno
B
D000328:Adult; D000653:Amniotic Fluid / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000002:abnormalities; D002490:Central Nervous System / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005865:Gestational Age; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal