Article
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
American journal of medical genetics. Part A - 15 Jul 2006
Castori Marco, Brancati Francesco, Rinaldi Rosanna, Adami Loredana, Mingarelli Rita, Grammatico Paola, Dallapiccola Bruno
Abstract excerpt
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...
Topics
- Adult
- Amniotic Fluid
- Bone and Bones
- Central Nervous System
- Facial Bones
- Female
- Gestational Age
- Goldenhar Syndrome
- Heart Defects, Congenital
- Humans
- Male