New dominant syndrome of pterygium colli, mental retardation, and digital anomalies.
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.
Department of Paediatrics, Queen's University, Kingston, Ontario, Canada.
M M
MM
Khalifa
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G
Graham
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009333:Neck / Q000002:abnormalities*; D013577:Syndrome