Spondylocarpotarsal synostosis with epiphyseal dysplasia.
We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome. Unlike other documented cases, radiographs of our patient at 5(1/2) years of age show delay in ossification of many of the epiphyses in addition to delay in carpal ossification. Such delay may have contributed to the distinctly short stature of this boy. This report both confirms and extends the phenotype of this recently delineated syndrome.
Honeywell
Christina
C
Eastern Ontario Regional Genetics Program, 401 Smyth Road, Ottawa, Ontario K1H SL1, Canada.
Langer
Leonard
L
Allanson
Judith
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002348:Carpal Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D010641:Phenotype; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000473:pathology*; D013639:Tarsal Bones / Q000002:abnormalities*