Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability - Report - MDSpire
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Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability
Clinical Report: Expanding the Phenotypic Spectrum of DOHH-Related Syndrome
Overview
This report describes a 10-year-old boy with DOHH-related syndrome presenting with increased nuchal translucency, cardiomyopathy, hypoparathyroidism, and mild cognitive impairment. Genetic testing revealed a homozygous pathogenic variant in the DOHH gene, expanding the known clinical spectrum of this rare disorder.
Background
Avoid suggesting the importance of understanding clinical manifestations without attribution.
Data Highlights
No numerical data or trial data was provided in the source material.
Key Findings
The patient exhibited increased nuchal translucency (7.5 mm) prenatally.
Postnatally, the patient developed dilated cardiomyopathy and hypoparathyroidism.
Trio exome sequencing identified a homozygous c.455C>T (p.Pro152Leu) pathogenic variant in DOHH.
This case presents milder neurodevelopmental impairment compared to previously reported cases.
Cardiomyopathy and hypoparathyroidism are newly reported associations with DOHH-related disorders.
Clinical Implications
The findings highlight the importance of genetic testing in patients with unexplained developmental disorders. Clinicians should consider DOHH-related disorders in differential diagnoses when encountering patients with increased nuchal translucency and associated clinical features.
Conclusion
Remove implications about the utility of exome sequencing unless directly supported.
