An unusual syndrome with mental retardation and sparse hair.
We report a 16-year-old female patient with an undiagnosed syndrome, of mental retardation, sparse hair, a prominent lower lip, brachydactyly with cone-shaped epiphyses.
Nicolaides
P
P
Hospital For Sick Children, London, UK.
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006197:Hair; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome