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March 10, 2026Prenatal Diagnosis0 citationsOpen Access

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

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HCHaley CraneRGRose GiardineASAlanna Strong

Key Points

  • To identify and characterize a novel FGFR2 variant associated with Beare-Stevenson Cutis Gyrata Syndrome diagnosed prenatally.
  • Prenatal genetic testing
  • Clinical evaluation of phenotypic features
  • Molecular analysis of the FGFR2 gene
  • Identification of a new FGFR2 variant
  • Documentation of the associated clinical features
  • Discussion of implications for prenatal counseling

Abstract

Key Points What is already known about this topic? What does this study add?

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Cite This Study

Crane et al. (2026) studied this question.

synapsesocial.com/papers/69af944f70916d39fea4b4b8https://doi.org/10.1002/pd.70113
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Also Consider

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  1. 1Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant2025
  2. 2Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual‐Generation Case Report2026
  3. 3Early Second Trimester Diagnosis of Bardet‐Biedel in a Fetus With a Novel In‐Frame Deletion Variant in <i>BBS12</i> Gene: The Phenotype Informs the Genotype2025
  4. 4Brachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant2025
  5. 5Prenatal Diagnosis of White–Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester2026