Altaf Raisa, Siraj Rabiya, Qureshi Ramsha Fatima, Panhwer Uzma, Naseer Hina, Abro Khansa
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引用次数: 0

摘要

骨骼疾病是我们在日常实践中遇到的常见实体。他们的早期诊断是适当管理和遗传咨询的关键。脊椎骨骺发育不良就是这样一种疾病。这是一种遗传性骨畸形,影响脊柱、近端骨骺和骨盆。这种疾病要么在出生时表现出来,要么在青春期表现出来,因此被称为先天性SED或迟发性SED。SED患者表现出不同的特征,包括身高矮、颈部短、足内翻、腭裂、脊柱后凸或前凸异常。我们也报告了一个11岁男孩的病例,他向我们提出了生长发育迟缓和姿势异常的投诉,并接受了放射成像。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spondyloepipheseal dysplasia tarda
Skeletal disorders are common entities that we encounter in our daily practice. Their early diagnosis is key to proper management and genetic counselling. Spondyloepiphyseal dysplasia is one such disorder. It is a genetic bone deformity that affects the spine, proximal epiphysis and pelvis. The disease is either manifested at birth or during adolescence therefore given the terms SED congenita or SED tarda. Patients with SED present with variable features including short height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. We also present a case of an 11-year-old boy who presented to us with complaints of stunted growth and abnormal posture and underwent radiological imaging.
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