title: Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
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.
authors.affiliation: 1New 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.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Rama
authors.affiliation: 2Division of Molecular Genetics,New York,New York,United States of America.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.affiliation: 3New 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.
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Cunniff
authors.affiliation: 1New 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.
authors.forename: Usha
authors.initials: U
authors.lastname: Krishnan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D004452:Echocardiography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D008943:Mitral Valve / Q000000981:diagnostic imaging / Q000503:physiopathology; D008946:Mitral Valve Stenosis / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: Mitral valve stenosis; acromelic dysplasia; geleophysic dysplasia