Abstract
We report a male child born with complete absence of his external ear, hemifacial microsomia of the right side, high arched palate, a down-turned upper lip and slightly upslanting palpebral fissures. The features were suggestive of facio-auriculo-vertebral spectrum. Investigations showed a tandem duplication of the short arm of one chromosome 10 with apparent breakpoints at p14 and p15. This case extends the list of chromosomal abnormalities associated with the facio-auriculo-vertebral phenotype and also adds useful clinical information to possible trisomy 10p phenotypes.
| Original language | English |
|---|---|
| Pages (from-to) | 25-27 |
| Number of pages | 3 |
| Journal | CLINICAL DYSMORPHOLOGY |
| Volume | 15 |
| Issue number | 1 |
| Publication status | Published - Jan 2006 |
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy