Herlyn-Werner-Wunderlich Syndrome Presenting as an Incidental Retrovesical Cyst in an Infant: A Case Report.

Müllerian (paramesonephric) ducts are the primordial components of the female reproductive tract, and defects in their development can lead to a range of uterine anomalies, including hypoplasia, agenesis, and other structural abnormalities. Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. This syndrome is often diagnosed incidentally, typically presenting with symptoms related to urinary tract or reproductive system malformations.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Poretti-Boltshauser syndrome (PTBHS) is a neuro-ophthalmological rare genetic disease that has an autosomal recessive inheritance that occurs as a consequence of a mutation in the LAMA1 gene. This gene is important in the development of blood vessels and certain organs, including the cerebellum and the retina. PTBHS is characterized by specific cerebellar abnormalities that manifest in the development of certain clinical features, including cerebellar ataxia, intellectual disability, and delayed language and motor development.

ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility.

Single nucleotide polymorphisms (SNPs) are useful genetic markers to investigate the onset of multiple sclerosis (MS). A genome wide association study identified 7 SNPs associated with interferon‑β therapy response, however, not with MS risk in a Spanish population. To investigate these findings in a different cohort, the 7 SNPs were investigated in an Arabian Gulf population.