Hanin Kassem

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...