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Article

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.

American journal of medical genetics. Part A - 1 Oct 2025

Akcan Mehmet Berkay, Torun Raziye, Türk Tuba Sözen, Kırbıyık Özgür, Ekin Atalay, Koç Altuğ

Abstract excerpt

Silverman-Handmaker type dyssegmental dysplasia (DDSH) is a rare and lethal skeletal dysplasia caused by biallelic null variations in the HSPG2 gene, which encodes the extracellular matrix proteoglycan perlecan. Here, we report a prenatal case of DDSH identified at 18 weeks of gestation, referred due to ultrasonographic findings of limb shortening, retrognathia, and irregularities in the lumbar vertebrae....

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Identifiers

PMID: 40503612
DOI: 10.1002/ajmg.a.64152

Genes

HSPG2

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