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.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


合計: 7

                       


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PMID (PMCID)
28543917
 MIXED_SAMPLE Infant, Newborn
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad E, Campeau PM.
J Bone Miner Res. 2017;32(9):1853-1859.
Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia.
26317189
 MIXED_SAMPLE Infant
[Two siblings with bilateral congenital knee dislocations: case report].
Kubinec V, Polakoviova L, Kantarska D.
Acta Chir Orthop Traumatol Cech. 2015;82(2):161-6.
Key words: bilateral congenital knee dislocation, patella, Desbuquois dysplasia, siblings, skeletal dysplasia, case report.
20358610
 MIXED_SAMPLE Adult
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.
Baynam G, Kiraly-Borri C, Goldblatt J, Dickinson JE, Jevon GP, Overkov A.
Am J Med Genet A. 2010;152A(4):966-9.
We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal.
20358610
 MIXED_SAMPLE Adult
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.
Baynam G, Kiraly-Borri C, Goldblatt J, Dickinson JE, Jevon GP, Overkov A.
Am J Med Genet A. 2010;152A(4):966-9.
We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal.
11200998
 MALE Infant, Newborn
Lethality in Desbuquois dysplasia: three new cases.
Hall BD.
Pediatr Radiol. 2001;31(1):43-7.
Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal 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.
On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling 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.
A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?