Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability - Top-Institutions - MDSpire

Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability

  • By

  • Elise Daire

  • Sabine Dirani

  • Karine Braun

  • Segolene Delmas Lanta

  • Hélène Cavé

  • Adeline Alice Bonnard

  • Benedicte Demeer

  • June 4, 2026

  • 0 min

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Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

    National Institutes of Health Clinical Center
    National Institutes of Health Clinical Center

    Bethesda, Maryland

    Key Differentiators

    • Genetics
    • Rare Diseases

  • #2

    Baylor College of Medicine
    Baylor College of Medicine

    Houston, Texas

    Key Differentiators

    • Genetics
    • Molecular Genetics

  • #3

    Columbia University Department of Psychiatry
    Columbia University Department of Psychiatry

    New York, New York

    Key Differentiators

    • Psychiatry
    • Genetics

  • #4

    New York State Psychiatric Institute
    New York State Psychiatric Institute

    New York, New York

    Key Differentiators

    • Psychiatry
    • Genetics

  • #5

    Nathan Kline Institute
    Nathan Kline Institute

    Orangeburg, New York

    Key Differentiators

    • Psychiatry
    • Neuroscience

Original Source(s)

Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability

  • by Elise Daire, Sabine Dirani, Karine Braun, Segolene Delmas Lanta, Hélène Cavé, Adeline Alice Bonnard, Benedicte Demeer

  • June 4, 2026

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