Haddad syndrome: a case report and literature review

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JO Santellán-Hernández

Abstract

Haddad syndrome is a genetic disease with autosomal dominant transmission result of a mutation in the genes that regulate migration and differentiation of neural crest cells during pregnancy. Children with Haddad syndrome begin with hypoxia that develops in the first few hours of birth and intestinal transit problems in the subsequent days. Diagnosis should be made by integrating the clinical manifestations and confirmation by genetic analysis of the gene PHOX2B. The treatment of children with Haddad syndrome is focused on providing adequate control of hypoxia through mechanical ventilation for life, colostomy or colon selective surgery, continuous monitoring of vital signs and oxygen saturation and maintain the prophylaxis for comorbidities as pneumonia.

KEYWORDS: Haddad syndrome; ondina; Hirschsprung; ciliopathy; neurocristopathy absence of respiratory automatism; PHOX2B gene

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