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Article

Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.

International journal of pediatric otorhinolaryngology - 1 Jul 2017

Oliver Jeremie D, Menapace Deanna C, Cofer Shelagh A

Abstract excerpt

Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on...

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Source

Identifiers

PMID: 28583501
DOI: 10.1016/j.ijporl.2017.04.035

Genes

FGFR1

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.

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Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.PMID 28583501Read ↗

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