Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia

C. Cunniff, K. Lyons Jones, H. M. Saal, H. J. Stern

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

Original languageEnglish (US)
Pages (from-to)499-504
Number of pages6
JournalPediatrics
Volume85
Issue number4
StatePublished - Jan 1 1990

Keywords

  • Fryns syndrome
  • autosomal recessive inheritance
  • congenital diaphragmatic hernia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia'. Together they form a unique fingerprint.

  • Cite this