Abstract
We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.
Original language | English (US) |
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Pages (from-to) | 253-255 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 120 A |
Issue number | 2 |
DOIs | |
State | Published - Jul 15 2003 |
Externally published | Yes |
Keywords
- Anophthalmia
- Arachnoid cyst
- Cerebro-oculo-nasal syndrome
- Corpus callosumagenesis
- Interhemispheric lipoma
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)