Rama Gabriel, Chung Wendy K, Cunniff Christopher M, Krishnan Usha
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.
2Division of Molecular Genetics,New York,New York,United States of America.
Cardiol Young. 2017 May;27(4):797-800. doi: 10.1017/S1047951116002006. Epub 2017 Jan 12.
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.
肢端发育异常是一组骨骼发育异常疾病，其特征为四肢短小身材矮小，并伴有其他独特的表型特征，包括手足小和关节僵硬。脂肪代谢障碍性发育异常是一种肢端发育异常疾病，伴有特征性面部特征、进行性心脏瓣膜增厚和气管狭窄。由于与其他类型的四肢短小骨骼发育异常存在重叠的临床特征，因此准确诊断很重要，因为它们具有不同的心脏发病率和死亡率。我们报告了3例脂肪代谢障碍性发育异常和进行性二尖瓣疾病患者的病例，以强调这种疾病的自然病程，并为这些个体的心脏健康监测提供指导。
