Desbuquois syndrome

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

Osteopenia

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.


合計: 2

                       


（表示件数）
PMID (PMCID)
10378396
 MIXED_SAMPLE Infant
A mild variant of Desbuquois dysplasia.
Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K.
Eur J Pediatr. 1999;158(6):479-83.
The skeletal alterations in the present disorder, including generalized osteopenia, mild modification of the vertebral endplates, epiphyseal flattening of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femora), and advanced carpal skeletal age, are almost identical to those of Desbuquois dysplasia.
8956941
 MALE
A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?
Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N.
Eur J Pediatr. 1996;155(12):1040-2.
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.