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Article

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

American journal of medical genetics. Part A - 1 Oct 2017

Reynolds Kara K, Juusola Jane, Rice Gregory M, Giampietro Philip F

Abstract excerpt

We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

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Source

Identifiers

PMID: 28817240
DOI: 10.1002/ajmg.a.38379

Genes

PIGV
PIGN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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