Pterygium Colli And Mental Retardation With Facial And Digital Anomalies

Khalifa and Graham (1994) described what they considered to be a previously undescribed pterygium colli/mental retardation syndrome. The proband was the offspring of a 30-year-old mother and a 56-year-old father. Delivery at 38 weeks' gestation was by cesarean section because of cephalopelvic disproportion. At birth he had severe webbing of the neck, edema of the dorsum of the hands and feet, and hypotonia. The mother was noted to have webbing of the neck. Their chromosomes were normal. At the age of 18 years, height and head circumference were at the 50th percentile. Craniofacial abnormalities included brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears. The digits were remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. The mother had similar but less severe manifestations. Khalifa and Graham (1994) concluded that this disorder was different from Noonan syndrome (163950) because of the normal stature and different from the pterygium/mental retardation syndrome (177980) described by Haspeslagh et al. (1985) because of the normal stature and the differences in craniofacial anomalies. It was also different from the isolated pterygium colli (177990) described by Graham and Smith (1981). They suggested that the inheritance was either X-linked dominant or autosomal dominant.