Disorders

Desbuquois Dysplasia

Synonym(s): DBQD, Desbuquois Syndrome, Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification

OMIM

Gene	Locus	Protein
CANT1	17q25.3	Soluble calcium-activated nucleotidase 1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
Connective Tissue Gene Tests - Allentown, PA, USA
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.