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Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Published online by Cambridge University Press:  12 January 2017

Gabriel Rama ,
Wendy K. Chung ,
Christopher M. Cunniff  and
Usha Krishnan
Gabriel Rama
Affiliation:
New York Presbyterian – Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center, Division of Pediatric Cardiology, New York, New York, United States of America
Wendy K. Chung
Affiliation:
Division of Molecular Genetics, New York, New York, United States of America
Christopher M. Cunniff
Affiliation:
New York Presbyterian – Phyllis and David Komansky Center for Children’s Health, Weill Cornell Medical Center, Division of Clinical Genetics, New York, New York, United States of America
Usha Krishnan*
Affiliation:
New York Presbyterian – Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center, Division of Pediatric Cardiology, New York, New York, United States of America
*
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
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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.

Keywords

Mitral valve stenosisacromelic dysplasiageleophysic dysplasia
Type
Brief Report
Information
Cardiology in the Young , Volume 27 , Issue 4 , May 2017 , pp. 797 - 800
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Copyright
© Cambridge University Press 2017 

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References

1. Myhre, SA, Ruvalcaba, RH, Graham, CB. A new growth deficiency syndrome. Clin Genet 1981; 20: 1–5.CrossRefGoogle ScholarPubMed
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: 745–749.CrossRefGoogle ScholarPubMed
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: 7–14.CrossRefGoogle Scholar
4. Vanace, P, Fried-man, S, Waagner, BM. Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. Circulation 1960; 21: 80–89.CrossRefGoogle Scholar
5. Spranger, JW, Gilbert, EF, Tuffli, GA, Rossiter, FP, Opitz, JM. Geleophysic dwarfism: a ‘focal’ mucopolysaccharidosis? Lancet 1971; 2: 97–98.CrossRefGoogle ScholarPubMed
6. Elhoury, ME, Faqeih, E, Almoukirish, AS, Galal, MO. Cardiac Involvement in geleophysic dysplasia in three siblings of a saudi family. Cardiol Young 2015; 25: 81–86.CrossRefGoogle ScholarPubMed
7. Scott, A, Yeung, S, Dickinson, DF, Karbani, G, Crow, YJ. Clinical report natural history of cardiac involvement in geleophysic dysplasia. Am J Hum Genet. 2005; 132A: 320–323.Google Scholar
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