骨骼发育不良会引起严重的神经系统症状,并破坏体内许多骨骼和软骨的发育。骨骼发育不良,虽然在儿科人群中很常见,很少出现在老年群体中。
该病例在一名50岁的男性患者中出现了骨骼发育不良的独特偶然发现。最终的检查掩盖了颅骨发育不良和脊椎骨发育不良的存在。在这种情况下,患者同时患有两种发育不良。
■锁骨发育不良和脊椎骨phy发育不良是两种罕见的常染色体显性遗传发育不良,通常在生命早期被诊断出,并可能产生严重的后果,包括死亡。在生命早期诊断孩子是至关重要的。彻底骨骼检查的放射学发现有助于早期发现许多发育不良,这有助于改善生活质量并允许有效治疗。
■我们所介绍的病例的新颖性在于CCD和SED的罕见表现在年龄较大时同时发生,伴随的侧支异常通常在婴儿中更常见。因此,早期诊断对于优化管理至关重要。
UNASSIGNED: Skeletal dysplasia\'s cause significant neurological symptoms and disrupt the development of many bones and cartilages in the body. Skeletal dysplasia, although a common presentation in paediatric population, rarely presents in older age group.
UNASSIGNED: This
case presents a unique incidental finding of skeletal dysplasia in a fifty-year-old male patient who presented with osteoarthritis. Eventual workup uncloaked the presence of cleidocranial dysplasia and spondyloepiphyseal dysplasia. The patient in this
case had both dysplasias at the same time.
UNASSIGNED: Cleidocranial dysplasia and Spondyloepiphyseal dysplasia are two uncommon autosomal dominant dysplasia\'s that are often diagnosed in early life and can have serious consequences, including death. It is critical to diagnose a child early in life. Radiology findings from a thorough skeletal examination aid in the early detection of numerous dysplasia\'s, which helps improving quality of life and allowing for effective treatment.
UNASSIGNED: The novelty of our presented
case lies in the rare presentation of CCD and SED occurring concurrently at an older age with accompanying collateral abnormalities usually emerging more commonly in infants. Early diagnosis is thus essential for optimal management.