TY - JOUR
T1 - A case of skeletal dysplasia with advanced carpal ossification and 'monkey wrench' appearance of the femora
T2 - Mild Desbuquois dysplasia?
AU - Nishimura, G.
AU - Sato, S.
AU - Ogata, T.
AU - Tamai, S.
AU - Hasegawa, T.
AU - Matsuo, N.
PY - 1996/1/1
Y1 - 1996/1/1
N2 - We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a 'monkey wrench' appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and his short stature, which became apparent postnatally, was much milder than that of the previously reported cases (approximately -5 SD of average). and the joint laxity was more subtle. In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis. Conclusion: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.
AB - We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a 'monkey wrench' appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and his short stature, which became apparent postnatally, was much milder than that of the previously reported cases (approximately -5 SD of average). and the joint laxity was more subtle. In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis. Conclusion: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.
KW - Autosomal recessive trait
KW - Desbuquois dysplasia
KW - Mild phenotype
KW - Skeletal dysplasia
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U2 - 10.1007/BF02532527
DO - 10.1007/BF02532527
M3 - Article
C2 - 8956941
AN - SCOPUS:0029995717
VL - 155
SP - 1040
EP - 1042
JO - Acta Paediatrica Hungarica
JF - Acta Paediatrica Hungarica
SN - 0340-6199
IS - 12
ER -