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.

Mild short stature

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


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 combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of "a mild variant of Desbuquois dysplasia".
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 combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of "a mild variant of Desbuquois dysplasia".