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Hemiscrotal agenesis: a novel phenotype of a rare malformation.

Mohamed MansyMostafa KotbYasmine AbdelmeguidShaymaa RaafatMarwa M Abdelaziz
Published in: BMC pediatrics (2020)
We believe that this is the first case to be reported with hemiscrotal agenesis and ipsilateral cryptorchidism, associated with a perineal skin tag, unilateral monodactylous lower limb on the same side, unilateral cerebellar hypoplasia, and VSD. Interestingly, further genetic analysis is required to reach a final diagnosis. However, regrettably, advanced molecular diagnostic studies for this patient is not available in our country.
Keyphrases
  • lower limb
  • case report
  • soft tissue
  • single molecule