Dghoughi Basma, Beqqali Basma, Andour Hajar, Allali Nazik, Chat Latifa, El Haddad Siham
Mother and Child Radiology Department, University Mohamed V Rabat, Rabat, Morocco.
Radiol Case Rep. 2025 Mar 15;20(6):2772-2776. doi: 10.1016/j.radcr.2025.02.062. eCollection 2025 Jun.
Spondylocostal dysostosis (SCD) is a rare autosomal recessive congenital disorder, characterized by a spectrum of clinical and radiographic abnormalities affecting the spine and chest. The key features of the syndrome include short stature, spinal abnormalities with vertebral malformations. These skeletal malformations result in a reduced thoracic cavity, leading to respiratory complications, often accompanied by frequent chest infections. Diagnosis is primarily made in newborn phase, based on characteristic physical appearance, symptoms of thoracic insufficiency, family history, skeletal surveys, and, when available, genetic testing for specific mutations. While the syndrome's severity varies, milder forms are compatible with life, while more severe cases present significant challenges in respiratory management. We report the case of a 9-year-old girl diagnosed with SCD based on clinical-radiological findings.
脊椎肋骨发育不良（SCD）是一种罕见的常染色体隐性先天性疾病，其特征是一系列影响脊柱和胸部的临床及影像学异常。该综合征的关键特征包括身材矮小、伴有椎体畸形的脊柱异常。这些骨骼畸形导致胸腔变小，引发呼吸并发症，常伴有频繁的胸部感染。诊断主要在新生儿期进行，依据特征性外貌、胸廓发育不全症状、家族史、骨骼检查，以及在可行时进行特定突变的基因检测。虽然该综合征的严重程度各不相同，但较轻的形式可正常生活，而更严重的病例在呼吸管理方面面临重大挑战。我们报告一例基于临床放射学检查结果诊断为SCD的9岁女孩病例。
