ISSN - 0973-0958

Pediatric Oncall Journal View Article

An unusual case of CHARGE syndrome presenting with intrathoracic kidney and right-sided diaphragmatic hernia
Laila Essabar, Fz Aglili, Amina Barkat.
Department of Neonatology and Neonatal Resuscitation, National Center for Neonatology and Nutrition, Faculty of Medicine and Pharmacy of Rabat, Med V University, Rabat, Morocco.
CHARGE syndrome is a complex genetic disorder due to mutations in the CHD7 gene. Congenital diaphragmatic hernia has been rarely described in CHARGE syndrome. The following report describes an atypical presentation of this rare syndrome in a male infant associated with a right-sided Bochdaleck-type diaphragmatic hernia and intrathoracic right kidney.

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