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Article

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

American journal of medical genetics. Part A - 1 Feb 2004

Slavotinek Anne M

Abstract excerpt

Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on proban...

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Source

Identifiers

PMID: 14735597
DOI: 10.1002/ajmg.a.20381

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14735597-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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