Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectuse muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.