Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 1573-1579 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 140 |
| Issue number | 14 |
| DOIs | |
| Publication status | Published - Jul 15 2006 |
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Keywords
- Goldenhar syndrome
- Hemifacial microsomia
- Prenatal diagnosis
- Ultrasound
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). / Castori, Marco; Brancati, Francesco; Rinaldi, Rosanna; Adami, Loredana; Mingarelli, Rita; Grammatico, Paola; Dallapiccola, Bruno.
In: American Journal of Medical Genetics, Part A, Vol. 140, No. 14, 15.07.2006, p. 1573-1579.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
AU - Castori, Marco
AU - Brancati, Francesco
AU - Rinaldi, Rosanna
AU - Adami, Loredana
AU - Mingarelli, Rita
AU - Grammatico, Paola
AU - Dallapiccola, Bruno
PY - 2006/7/15
Y1 - 2006/7/15
N2 - 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.
AB - 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.
KW - Goldenhar syndrome
KW - Hemifacial microsomia
KW - Prenatal diagnosis
KW - Ultrasound
UR - http://www.scopus.com/inward/record.url?scp=33745601147&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745601147&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31290
DO - 10.1002/ajmg.a.31290
M3 - Article
VL - 140
SP - 1573
EP - 1579
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 14
ER -