Antenatal Phenotype of Desbuquois Dysplasia.

doi:10.1007/s12098-022-04386-8

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Article

Antenatal Phenotype of Desbuquois Dysplasia.

Indian journal of pediatrics - 1 Jan 2023

Biji Ishpreet K, Mahay Sunita Bijarnia, Saxena Renu, Verma Ishwar, Kumar Benu, Puri Ratna Dua

Abstract excerpt

Desbuquois dysplasia (DBQD) is an uncommon, autosomal recessive disorder with multiple joint dislocations. It is caused by pathogenic variants in CANT1 (calcium-activated nucleotidase 1) [NM_001159773.2]. This study adds to the scant data of nine reported antenatal phenotypes of DBQD. The present paper describes two unrelated consanguineous families with antenatal features of lethal skeletal dysplasia. The...

Topics

Osteochondrodysplasias
Polydactyly
Craniofacial Abnormalities
Joint Instability
Female
Ossification, Heterotopic
Pregnancy
Humans
Dwarfism
Phenotype
Mutation

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Open in PubMed

Identifiers

PMID: 36331722
DOI: 10.1007/s12098-022-04386-8

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