A syndrome of brachyphalangy, polydactyly and absent tibiae.
We report two unrelated children with a new syndrome consisting of polydactyly and tibial aplasia in the lower limbs. severe brachyphalangy in the hands, malformed ears and a micropenis.
Baraitser
M
M
Department of Clinical Genetics, Institute of Child Health, London, UK.
Stewart
F
F
Winter
R M
RM
Hall
C M
CM
Herman
S
S
Nevin
N C
NC
D000015:Abnormalities, Multiple; D004423:Ear / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000473:pathology; D008297:Male; D010413:Penis / Q000002:abnormalities; D017689:Polydactyly / Q000473:pathology*; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*