Congenital Anatomical Variant with Cranial Origin of Internal Iliac Arteries

We report the case of a 73-year-old male who underwent abdominal multidetector computed tomography with vascular reconstruction that highlighted a congenital variant of iliac arteries. Iliac artery anatomical variants are exceedingly rare and only a few cases have been reported in the literature.

A Forkhead box G1 (FOXG1) gene mutation in an Indian patient with a congenital variant of Rett syndrome.

A congenital variant of rett syndrome or Forkhead box G1 (FOXG1) syndrome is a rareneurodevelopmental disorder characterized by global developmental delay, microcephaly, autisticfeatures, early-onset dyskinesia, and seizures. Once it was described as one atypical variant of rettsyndrome but now considered as a separate entity. The current study found one girl carrying the denovo c.500-501incG frameshift mutation in the FOXG1 gene by genetic analysis during theevaluation for severe chronic encephalopathy. In literature, only one case was reported from Indiawith FOXG1 mutation. The FOXG1 mutation should be considered in children with a history of globaldevelopmental delay, dyskinesia, and microcephaly with characteristic brain neuroimaging findings.

A Rare Case of Human Diphallia Associated with Hypospadias

Diphallia or penile duplication is a rare congenital variant with an estimated frequency of 1 per 5 to 6 million live births. The extent of duplication varies widely and typically occurs with other malformations including urogenital, gastrointestinal, and musculoskeletal anomalies. Here we present a case of human diphallia that was detected during routine dissection of an 84-year-old cadaver. Upon thorough examination, this case was characterized as a complete bifid penis which was accompanied by hypospadias with no other anatomical abnormalities detected. To gain insights into the etiology of this case, we analyzed DNA procured from the body for putative genetic variants using Next Generation Sequencing (NGS) technology. Our results support clinical observations consistent with human diphallia being a polygenic syndrome and identify new genetic variants that might underlie its etiology.