Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
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.
Mingarelli
R
R
Cattedra di Genetica Medica, Università Tor Vergata, Rome, Italy.
Castriota Scanderbeg
A
A
Dallapiccola
B
B
D000005:Abdomen / Q000002:abnormalities; D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D015898:Tomography Scanners, X-Ray Computed