Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

doi:10.1002/pd.6632

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Article

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Prenatal diagnosis - 1 Aug 2024

Smith Carly M, Guinon Kristi, Bachir Suha, Tise Christina G

Abstract excerpt

Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.1575_1582dup;...

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PMID: 38982229
DOI: 10.1002/pd.6632

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