Camptodactyly syndrome Guadalajara type III

Overview

A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).

Symptoms

• Retarded fetal growth
• Camptodactyly
• Short stature
• Epicanthus
• Broad nose bridge

Diagnosis

Clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age.