Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

doi:10.3390/ijms25179700

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Article

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

International journal of molecular sciences - 7 Sept 2024

Piwar Hubert, Ordak Michal, Bujalska-Zadrozny Magdalena

Abstract excerpt

Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1...

Topics

Humans
Dwarfism
Mutation
Phenotype
Joint Instability
Joint Dislocations
Hydrolases
Female
Osteochondrodysplasias
Male
Nucleotidases
Ossification, Heterotopic
Polydactyly
Craniofacial Abnormalities

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Open in PubMed Open full text

Identifiers

PMID: 39273648
DOI: 10.3390/ijms25179700
PMCID: PMC11395126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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