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Article

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

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

Burrill Natalie, Teefey Christina Paidas, Wright Renee, Huynh Minh-Huy, Schindewolf Erica, Pilchman Lisa, Crane Haley, Noyes Amanda G, Roman Amanda, Gulersen Moti, Moldenhauer Julie S

Abstract excerpt

We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39780448
DOI: 10.1002/ajmg.a.63988

Genes

SEC24D

Variants

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