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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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PMID (PMCID)
19853239
 MIXED_SAMPLE Infant, Newborn
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V.
Am J Hum Genet. 2009;85(5):706-10.
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
15211652
 MIXED_SAMPLE Infant, Newborn
Clinical and genetic heterogeneity in Desbuquois dysplasia.
Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V.
Am J Med Genet A. 2004;128A(1):29-32.
Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a "Swedish key" appearance of the proximal femur, and advanced carpal and tarsal bone age.
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.
Short stature in the present disorder does not reach the degree of Desbuquois dysplasia.