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.
|Number of pages||3|
|Journal||Journal of Medical Genetics|
|Publication status||Published - 1996|
- Autosomal recessive inheritance
- OSA syndrome
- Skeletal defects
ASJC Scopus subject areas