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Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

  • Gabriel Rama (a1), Wendy K. Chung (a2), Christopher M. Cunniff (a3) and Usha Krishnan (a1)

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.

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Corresponding author

Correspondence to: U. Krishnan, MD, Associate Professor, Division of Pediatric Cardiology, Columbia University Medical Center, 3959 Broadway, New York, NY 10032, United States of America. Tel: (212) 305 4436; Fax: (212) 342-1443; E-mail: usk1@cumc.columbia.edu

References

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2. Faivre, L, Le Merrer, M, Baumann, C, et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001; 38: 745749.
3. Le Goff, C, Mahaut, C, Wang, L W, et al. Mutations in the TGFb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011; 89: 714.
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Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

  • Gabriel Rama (a1), Wendy K. Chung (a2), Christopher M. Cunniff (a3) and Usha Krishnan (a1)

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