Published Date: August 1, 1994

Full Text Article

New dominant syndrome of pterygium colli, mental retardation, and digital anomalies

Authors: M M Khalifa, G Graham

Am J Med Genet. 1994 Aug 1;52(1):55-7. doi: 10.1002/ajmg.1320520111.


We describe a proband and his mother who appear to have a new dominant syndrome of mental retardation: pterygium colli, unusual features, and digital anomalies. The craniofacial abnormalities include brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low set, posteriorly rotated ears. The digits are remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges.

PMID: 7977463DOI: 10.1002/ajmg.1320520111