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.

Joint laxity

Lack of stability of a joint.


合計: 3

                       


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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.
9001812
 MALE
Desbuquois syndrome in an Arab Bedouin family.
al-Gazeli LI, Aziz SA, Bakalinova D.
Clin Genet. 1996;50(4):255-9.
We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity.