Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.
We report a family of three affected individuals with the facial features of Char syndrome. The family also demonstrates symphalangism of the distal interphalangeal joints of the fifth fingers, extending the digital phenotype seen in this condition. We review the features of previously reported patients and emphasise the variability in the phenotype of Char syndrome.
Sweeney
E
E
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital, UK. Elizabeth@VRcade.net
Fryer
A
A
Walters
M
M
D000328:Adult; D002648:Child; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome