Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability
Elise Daire, Sabine Dirani, Karine Braun, Segolene Delmas Lanta, Hélène Cavé, Adeline Alice Bonnard, Benedicte Demeer · 2026
Read 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 (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13275646.txt.
Description
Elise Daire and colleagues report a 2026 case of a ten-year-old boy with a rare DOHH gene disorder. Faults in this gene disrupt a chemical pathway and were first described in only five patients in 2022. Earlier cases showed severe learning delay, heart defects, and poor growth.
Signs began before birth, with extra fluid at the neck and around the heart. After birth the boy developed an enlarged, weakened heart muscle and low parathyroid hormone. Genetic testing found an inherited gene change carried in two copies. His learning problems were milder than earlier cases and his growth was normal, which widens the known picture of the disorder.
Catalog record
| CREATOR | Elise Daire, Sabine Dirani, Karine Braun, Segolene Delmas Lanta, Hélène Cavé, Adeline Alice Bonnard, Benedicte Demeer |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |