Camptodactyly, Myopia, And Fibrosis Of The Medial Rectus Muscle Of Eye

In a 13-year-old Turkish girl and her 11-year-old brother, Kilic et al. (1998) described a syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis. The girl also had ptosis. The children were intellectually normal. The parents were normal but consanguineous. The syndrome characterized by camptodactyly and joint contractures associated with multiple eye anomalies including ptosis, exophthalmos, and strabismus had been described in a 16-year-old Jewish girl by Rozin et al. (1984). She also had short stature and scoliosis, and her facial features were similar to those reported by Kilic et al. (1998). Parental consanguinity was found in that family also. Differences from other camptodactyly syndromes were reviewed.

Garcia-Ortiz et al. (2006) reported a 25-year-old Mexican man with a facial gestalt and other features similar to those of the patients previously described by Rozin et al. (1984) and Kilic et al. (1998), including ptosis, camptodactyly, flexion contractures, and scoliosis. The patient also had mental retardation, possibly a consequence of neonatal hypoxia, and had additional skeletal features including segmentation anomalies of the spine and carpal synostosis. Garcia-Ortiz et al. (2006) suggested that the skeletal changes might represent the natural history of this disorder; or, together with the mental retardation, might indicate a microdeletion syndrome. The patient died suddenly during sleep at age 25; no autopsy was done.