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Fryns syndrome in children with congenital diaphragmatic hernia

Holly L Neville1, Tom Jaksic, Jay M Wilson

  • 1Department of Surgery, University of Texas-Houston Medical School, Houston, TX 77030, USA.

Journal of Pediatric Surgery
|December 17, 2002
PubMed

Insights

Infants with Fryns syndrome and congenital diaphragmatic hernia (CDH) have a grim prognosis, with a high mortality rate. Early recognition of anomalies and genetic counseling are crucial for potential survival.

Area of Science:

  • Medical Genetics
  • Neonatal Surgery
  • Pediatric Cardiology

Background:

  • Fryns syndrome is a rare genetic disorder.
  • It is associated with multiple congenital anomalies, notably congenital diaphragmatic hernia (CDH).
  • The neonatal survival rate for Fryns syndrome with CDH is poor, estimated around 15%.

Purpose of the Study:

  • To detail the management and outcomes of infants diagnosed with Fryns syndrome and CDH.
  • To analyze the survival rates and associated complications in this patient cohort.

Main Methods:

  • Retrospective review of liveborn patients with CDH between 1995 and 2001.
  • Data collected from 83 hospitals and entered into the CDH database.
  • Focus on patients identified with Fryns syndrome.

Main Results:

  • 23 out of 1,833 CDH patients (1.3%) had Fryns syndrome.
  • All affected infants required intubation due to early distress.
  • Mortality rate was 83% in Fryns syndrome patients, significantly higher than unilateral CDH (33%).
  • 43% had other major anomalies; 3 of 4 survivors showed developmental delay.

Conclusions:

  • The prognosis for infants with Fryns syndrome and CDH remains extremely poor.
  • Early genetic counseling is recommended.
  • Identifying lethal anomalies early may aid in determining potential survival and guiding management decisions.
Abstract

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