Abstract
We describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low-set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303-305] and Temple [1992: Clin Dysmorphol 1:17-21].
| Original language | English (US) |
|---|---|
| Pages (from-to) | 27-30 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 57 |
| Issue number | 1 |
| DOIs | |
| State | Published - 1995 |
Keywords
- Char syndrome
- facial abnormalities
- familial patent ductus arteriosus