Progeroid Facial Appearance With Hand Anomalies

Clinical Features

Giannotti et al. (1997) described a father and son with a progeroid syndrome characterized by an unusual facial appearance, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and clinodactyly ('finger deviation'). Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. The heart defect in the son was tetralogy of Fallot, which was corrected at the age of 4 years. At the age of 7, he showed sparse hair, prominent veins (particularly over the scalp and limbs), frontal bossing, upslanting palpebral fissures, bilateral blepharophimosis, prominent nose, short philtrum, small mouth, thin lips, rounded chin, and large, prominent, abnormally modeled ears, with folded helix, and prominent antehelix and antitragus. The fingers were long with partial cutaneous syndactyly of fingers 2 and 3 and clinocamptodactyly of the fifth fingers. Audiometric examination showed bilateral conductive deafness. The father was the first child of healthy, nonconsanguineous parents; his father was 33 and mother 28 years of age at the time of his birth. At the time of evaluation he was 48 years old. His facial anomalies were said to be superimposable to those found in his son, including blepharophimosis, prominent thin nose, short philtrum, small mouth, thin lips, and long prominent ears. There was radial deviation of the third fingers, ulnar deviation of the fourth fingers, and camptodactyly of the fifth fingers. Subcutaneous fat was sparse and a reticular venous pattern was prominent.