■来自SCN26A2基因突变的扩张性发育不良(DTD)结果,具有常染色体隐性遗传和广泛可变的表型。该基因已定位到染色体5q32-q33.1。
■我们介绍一例4岁女性身材矮小,双侧脚和膝盖畸形,和发育不良相。SCN26A2突变见于患者和父母。她接受了涉及meta骨的多种骨科手术,腹肌,和股骨远端.根据典型的临床特征,DTD被怀疑。在这种情况下,对患者和父母的遗传研究提供了确切的诊断。
遗传诊断和家庭咨询是管理的重要警告。耳朵异常等关键特征有助于怀疑诊断,这需要高度怀疑。下肢相关的骨和软组织异常可能需要手术干预以改善步态,功能,和宇宙。
UNASSIGNED: Diastrophic dysplasia (DTD) results from SCN26A2 gene mutation, with autosomal recessive inheritance and widely variable phenotype. The gene has been mapped to chromosome 5q32-q33.1.
UNASSIGNED: We present a
case of a 4-year-old female with short stature, bilateral feet and knee deformity, and dysplastic facies. SCN26A2 mutations were seen in patient as well as parents. She underwent multiple orthopedic procedures involving metatarsals, gastrosoleus, and distal femur. Based on typical clinical features, DTD was suspected. Genetic studies of patient and parents provided the exact diagnosis in this
case.
UNASSIGNED: Genetic diagnosis and family counseling are important caveat of management. Key features like ear abnormalities help to suspect diagnosis which requires a high index of suspicion. Associated bony and soft-tissue abnormalities of lower limb may require surgical intervention for improvement of gait, functions, and cosmesis.