A symptom complex in the same group as Goldehaar syndrome, Aicardi's syndrome and Jarcho-Levin spondylocostal dysplasia.
The syndrome is a combination of microphthalmia and colobomas or anophthalmia with small orbit, twisted face due to unilateral soft tissue dysplasia of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations and costal anomalies such as branched and hypoplastic ribs.
- H. Weyers, J. Thier:
Malformations mandibulo-faciales et délimitation d’un «syndrome oculo-vertébral».
Journal de genetique humaine, Geneva, 1958, 7: 143-173.
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