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Article

Variability in the phenotypic expression of fryns syndrome: A report of two sibships.

American journal of medical genetics - 18 Dec 2000

Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H

Abstract excerpt

We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound...

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Source

Identifiers

PMID: 11146459
DOI: 10.1002/1096-8628(20001218)95:5<415::aid-ajmg2>3.0.co;2-j

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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