Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability - Scorecard - 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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Clinical Scorecard: Clinical Case: Expanding the Phenotypic Spectrum of DOHH-Related Syndrome Featuring Increased Nuchal Translucency, Cardiomyopathy, Hypoparathyroidism, and Mild Cognitive Impairment

At a Glance

CategoryDetail
ConditionDOHH-related syndrome
Key MechanismsPathogenic variants in the DOHH gene affect hypusine biosynthesis.
Target PopulationChildren with biallelic variants in the DOHH gene.
Care SettingPediatric care.

Key Highlights

  • Increased nuchal translucency observed prenatally.
  • Postnatal development of dilated cardiomyopathy and hypoparathyroidism.
  • Milder neurodevelopmental impairment compared to previous cases.
  • First report of cardiomyopathy and hypoparathyroidism in DOHH-related disorders.

Guideline-Based Recommendations

Diagnosis

  • Utilize trio exome sequencing for identifying pathogenic variants in DOHH.

Management

  • Monitor cardiac function and manage hypoparathyroidism.

Monitoring & Follow-up

  • Long-term follow-up for neurodevelopmental and cardiac assessments.

Risks

  • Consider risks associated with invasive prenatal testing.

Patient & Prescribing Data

Children with DOHH-related syndrome.

Calcium and vitamin D supplementation for hypoparathyroidism.

Clinical Best Practices

  • Conduct comprehensive genetic testing for patients with unexplained developmental delays.

Related Resources & Content

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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