Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Gabriel Rama, Wendy K. Chung, Christopher M Cunniff, Usha Krishnan

Research output: Contribution to journalArticle

Abstract

Acromelic dysplasias are a group of skeletal dysplasias characterised by short-limbed short stature with other distinctive phenotypic features including small hands and feet and stiff joints. Geleophysic dysplasia is an acromelic dysplasia that is associated with characteristic facial features, progressive cardiac valvular thickening, and tracheal stenosis. Owing to overlapping clinical features with other types of short-limbed skeletal dysplasias, it is important to make a precise diagnosis as they have different cardiac morbidity and mortality. We present the cases of three patients with geleophysic dysplasia and progressive mitral valve disease to emphasise the natural history of this disorder and provide guidance regarding cardiac health supervision in these individuals.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalCardiology in the Young
DOIs
StateAccepted/In press - Jan 12 2017
Externally publishedYes

Keywords

  • acromelic dysplasia
  • geleophysic dysplasia
  • Mitral valve stenosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

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