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Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia

Mohammed Joudi Aboud1, Mohammed Mojar Al-Shamsy

  • 1Pediatrics Surgery Unit, The Maternity and Child Teaching Hospital, Al-Qadisiya, Iraq. mohammedabud@yahoo.com

Pediatric Surgery International
|January 25, 2011
PubMed

Insights

Familial congenital diaphragmatic hernia (CDH) cases suggest a potential genetic link. Further investigation into genetic abnormalities is crucial for understanding severe fetal anomalies like CDH.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Neonatology

Background:

  • Congenital diaphragmatic hernia (CDH) affects 2.4-4.1 per 10,000 births.
  • Mortality remains high at 33% due to pulmonary hypoplasia and respiratory failure.
  • Fryns syndrome, an autosomal recessive disorder, is the most common syndrome associated with CDH.
Abstract

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