Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.
نویسندگان
چکیده
We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.
منابع مشابه
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. Recent studies have described that the PHOX2B gene mutation was responsible for congenital central hypoventilation syndrome. We report a term newborn male infant with clinical manifestations of recurrent hypovent...
متن کاملCongenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene ...
متن کاملHaddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypove...
متن کاملCongenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review
OBJECTIVE To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. CASE DESCRIPTION Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age...
متن کاملSuccessful redo pull-through for Hirschsprung's disease in a Haddad syndrome patient.
Haddad syndrome is characterized by congenital central hypoventilation syndrome (Ondine's curse) associated with segmental distal gut aganglionosis (Hirschsprung's disease). The prognosis of Haddad syndrome is very poor, and survival is often less than 2 years. Treatment of Hirschsprung's disease is usually influenced by the association with Ondine's curse. We report the case of a girl with Had...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 4 شماره
صفحات -
تاریخ انتشار 1989