A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly

A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.