A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report
Yazan A. Al-Ajlouni, Maysa Lihaz, Mohammad Islam · 2025
Read A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report by Yazan A. Al-Ajlouni, Maysa Lihaz, Mohammad Islam (2025) 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-12729241.txt.
Description
Yazan Al-Ajlouni, Maysa Lihaz, and Mohammad Islam report a case of Loucks-Innes syndrome in this 2025 paper. The ultra rare disorder stems from faults in a gene needed to build diphthamide, a protein modification. Fewer than twenty cases appear in the literature. Their patient was a fourteen-year-old boy from Yemen with a new homozygous variant. He had water on the brain at birth, newborn seizures, a distinctive face, and sparse hair. He also showed short stature, learning disability, underdeveloped toenails, and hearing loss in both ears.
His heart showed a widened aortic root. He could move only by crawling and used a wheelchair. The authors use the case to argue for genetic testing when learning disability comes with short stature and face or skin signs. Each new case sharpens the picture of a syndrome few doctors will ever see.
Catalog record
| CREATOR | Yazan A. Al-Ajlouni, Maysa Lihaz, Mohammad Islam |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |