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Article

Fryns syndrome phenotype and trisomy 22.

American journal of medical genetics - 2 Jan 1996

Ladonne J M, Gaillard D, Carré-Pigeon F, Gabriel R

Abstract excerpt

Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy 22. This case demonstrates the importance of...

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Source

Identifiers

PMID: 8741922
DOI: 10.1002/(SICI)1096-8628(19960102)61:1<68::AID-AJMG13>3.0.CO;2-U

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.Semantic proximity Read ↗

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