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Article

Severe constipation in a patient with Myhre syndrome: a case report.

Clinical dysmorphology - 1 Apr 2016

Bassett John K, Douzgou Sofia, Kerr Bronwyn

Abstract excerpt

Myhre syndrome is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects. Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting...

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Source

Identifiers

PMID: 26636501
DOI: 10.1097/MCD.0000000000000109

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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