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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

Crossref DOI link: https://doi.org/10.1186/s13256-025-05713-1

Published Online: 2025-12-24

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Al-Ajlouni, Yazan A. https://orcid.org/0000-0002-1718-4964
Lihaz, Maysa

Islam, Mohammad
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Text and Data Mining valid from 2025-12-24

Version of Record valid from 2025-12-24
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Article History

Received: 17 July 2023

Accepted: 21 October 2025

First Online: 24 December 2025

Declarations

:

: Ethical approval for this study was waived under the consideration of informed consent by the patient.

: Written informed consent was obtained from the patient’s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

: The authors declare that they have no competing interests.

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