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

This case report adds to the limited knowledge on developmental delay with short stature, dysmorphic facial features, and sparse hair and highlights the importance of genetic workup in patients with intellectual disability, short stature, and craniofacial and ectodermal anomalies. Further research is needed to better understand the pathogenesis and clinical features of this rare syndrome.