Abstract
Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.
Original language | English (US) |
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Pages (from-to) | 211-215 |
Number of pages | 5 |
Journal | Clinical Genetics |
Volume | 49 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1996 |
Keywords
- Dandy-Walker malformation
- Hydrocephalus
- Hydrolethalus syndrome
- Micrognathia
- Occipital bone defect
- Postaxial polydactyly
- Vertebral anomaly
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)