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

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

Research output: Contribution to journalArticle

39 Citations (Scopus)

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 - 1990
Externally publishedYes

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Diaphragmatic Hernia
Cardiovascular Abnormalities
Extremities
Central Nervous System
Recurrence
Fryns syndrome

Keywords

  • autosomal recessive inheritance
  • congenital diaphragmatic hernia
  • Fryns syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Fryns syndrome : An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. / Cunniff, Christopher M; Lyons Jones, K.; Saal, H. M.; Stern, H. J.

In: Pediatrics, Vol. 85, No. 4, 1990, p. 499-504.

Research output: Contribution to journalArticle

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