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Desbuquois dysplasia 2(DBQD2)

MedGen UID:
862731
Concept ID:
C4014294
Disease or Syndrome
Synonyms: Baratela-Scott syndrome; DBQD2
 
XYLT1 (16p12.3)
 
Monarch Initiative: MONDO:0014343
OMIM®: 615777

Definition

Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450). [from OMIM]

Clinical features

From HPO

Professional guidelines

PubMed

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U
J Sleep Res 2023 Oct;32(5):e13914. Epub 2023 May 1 doi: 10.1111/jsr.13914. PMID: 37128177

Recent clinical studies

Diagnosis

Rajabi F, Bereshneh AH, Ramezanzadeh M, Garshasbi M
BMC Pediatr 2022 Jan 26;22(1):63. doi: 10.1186/s12887-022-03132-5. PMID: 35081921Free PMC Article

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