Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Abstract Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndro...

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Bibliographic Details
Main Authors: Ingrid Anne Mandy Schierz, Mario Giuffrè, Marcello Cimador, Maria Michela D’Alessandro, Gregorio Serra, Federico Favata, Vincenzo Antona, Ettore Piro, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2022-02-01
Series:Italian Journal of Pediatrics
Subjects:
Case report
Xp22.3 nullisomy
Congenital anomalies of the kidney and urinary tract
Gastric outlet obstruction
Digestive system abnormalities
Online Access:https://doi.org/10.1186/s13052-022-01218-5

Internet

https://doi.org/10.1186/s13052-022-01218-5

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