[Pure spondylar dysplasia or brachyolmy. Apropos of a case].
A case of brachyolmy in a 13 year-old girl is reported. Growth retardation was detected when the child was 5 year old and became severe when 13 years. It concerned only the trunk, limbs being normal. Kyphoscoliosis, akromikia of hands and feet, slight facial dysmorphy with flat nose and thick lips were present. Characteristic radiological features were observed: kyphoscoliosis, platyspondyly with transversally enlarged and irregular vertebrae. Morphological changes of the other epiphyses were minimal: short and squat colla femorii and reduced size of the aleae ilii. Mental development was normal and polyvisceral examination unremarkable. No biological changes were demonstrable, mucopolysaccharides and urinary acids having been found normal. This condition may be transmitted as an autosomal recessive trait.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000145:classification / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000145:classification / Q000235:genetics; D010375:Pedigree; D013122:Spinal Diseases / Q000145:classification / Q000235:genetics*
La dysplasie spondylaire pure ou brachyolmie. A propos d'une observation