1.
Am J Med Genet
; 77(1): 28-30, 1998 Apr 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-9557890
RESUMO
Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.