Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability - Summary - 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
To report a novel clinical case of a patient with DOHH-related syndrome and expand the phenotypic spectrum associated with this condition, as observed in the clinical presentation.
Key Findings:
Increased nuchal translucency was observed prenatally.
Postnatal findings included dilated cardiomyopathy and hypoparathyroidism.
The patient exhibited milder neurodevelopmental impairment compared to previously reported cases, with no growth restriction.
Interpretation:
This case expands the phenotypic spectrum of DOHH-related disorders, including cardiomyopathy and hypoparathyroidism.
Limitations:
Only one case is reported, necessitating further cases to confirm associations.
The study relies on genetic testing and clinical observations without extensive longitudinal data.
Conclusion:
The findings highlight the importance of long-term follow-up for accurate phenotypic characterization.
