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Article

Diaphragmatic hernia as the first echographic sign in Apert syndrome.

Prenatal diagnosis - 1 May 2000

Witters I, Devriendt K, Moerman P, van Hole C, Fryns J P

Abstract excerpt

We report left diaphragmatic hernia as the first presenting echographic sign in a malformed male fetus with Apert syndrome. Molecular studies confirmed the presence of a mutation in the FGFR2 gene (Ser 252 Trp).

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Share to Acrocephalosyndactylia
Share to Fibroblasts
Share to Hernia, Diaphragmatic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 10820409

Genes

FGFR2

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Diaphragmatic hernia as the first echographic sign in Apert syndrome.PMID 10820409Read ↗

Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome.Semantic proximity Read ↗

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Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.Semantic proximity Read ↗

Prenatal diagnosis of Apert syndrome.Semantic proximity Read ↗

[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene].Semantic proximity Read ↗

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case reportSemantic proximity Read ↗

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Semantic proximity Read ↗

[Apert syndrome or acrocephalosyndactilia type I].Semantic proximity Read ↗

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.Semantic proximity Read ↗

Atypical presentation of a newborn with Apert syndrome.Semantic proximity Read ↗

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.Semantic proximity Read ↗

Clinical Manifestations of Apert syndromeSemantic proximity Read ↗

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