Author

Rami Abuhajji

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Case report Open access Sep 2026

Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report

This case highlights the classic expanded phenotype of 22q11.2DS in infancy and demonstrates the technical limitations of WES in identifying microdeletions, and illustrates how parental consanguinity can introduce overlapping or incidental genetic findings (TTN, NEXN, ANO5) that require careful clinical correlation.

Amir Abadi, Usra I. Ghanem, Bissan Badran et al. · Frontiers in Pediatrics · 0 citations

Case report Aug 2026

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

A male infant born to first-cousin parents presenting with severe global developmental delay, refractory seizures, progressive microcephaly, and feeding difficulties is reported, together with a previously unreported finding of imperforate anus, raising the possibility that the phenotypic spectrum of FAR1 deficiency ma...

Mostafa Ibraheem Abo Alrob, Fawaz Awad, Ranya Abu Khalaf et al. · American Journal of Medical... · 0 citations