Abstract
Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.
| Original language | English |
|---|---|
| Pages (from-to) | 884-886 |
| Number of pages | 3 |
| Journal | Journal of Medical Genetics |
| Volume | 33 |
| Issue number | 10 |
| Publication status | Published - 1996 |
Fingerprint
Keywords
- Autosomal recessive inheritance
- Blepharophimosis
- OSA syndrome
- Skeletal defects
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Mingarelli, R., Scanderbeg, A. C., & Dallapiccola, B. (1996). Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). Journal of Medical Genetics, 33(10), 884-886.