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.

Generalized joint laxity

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.

合計: 1

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PMID (PMCID)
27030147	MIXED_SAMPLE	Adult
	Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
	Jamsheer A, Olech EM, Kozlowski K, Niedziela M, Sowinska-Seidler A, Obara-Moszynska M, Latos-Bielenska A, Karczewski M, Zemojtel T. J Hum Genet. 2016;61(7):577-83.
	Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism.