Spondyloperipheral dysplasia.
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations) and brachydactyly. Our patient also manifested a characteristic "pugilistic" face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia.
Sorge
G
G
Clinica Pediatrica, Università di Catania, Italy.
Ruggieri
M
M
Lachman
R S
RS
D000328:Adult; D003638:Deafness / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D013131:Spine / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities