脊柱骨发育不良--贾乔-莱文综合征:病例报告

Aruna Chandra Babu, Rani Ameena Bashir, Sakeer Vayal Thrikkovil, Neena Vinod
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摘要

贾乔-莱文综合征(JLS)是一种罕见的先天性疾病,为常染色体隐性遗传,表现为脊柱和胸部的一系列临床和影像学异常。JLS 的确切遗传基础尚不清楚,因此通常根据典型的临床特征进行诊断,如畸形的肋骨,这些肋骨错位、拥挤、融合、双折叠,所有肋骨在肋椎关节处向后对称融合,并向前方外扩,使胸部呈现 "蟹状 "或 "扇状 "外观。在此,我们报告了一例因呼吸困难而就诊的男婴,他有特征性的骨骼畸形,包括先天性脊柱侧弯伴椎体异常、多根肋骨融合伴先天性心脏病大的 7 毫米心尖室间隔缺损 (VSD)、伴肺血流增加的多发性肌中室间隔缺损、5 毫米心房中隔缺损、左心室扩张伴左心室功能衰竭。如果在胸廓供血不足的临床背景下出现特征性体征和放射学发现,则可诊断为 JLS。在本病例报告中,我们希望让大家了解,当婴儿出现呼吸困难、脊椎和胸廓畸形时,应牢记 JLS 的诊断,如果不及时治疗,就有可能出现呼吸衰竭,从而有可能致命。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spondylocostal dysplasia – Jarcho–Levin syndrome: A case report
Jarcho–Levin syndrome (JLS) refers to a rare congenital disorder, inherited in an autosomal recessive pattern, which presents as a spectrum of clinical and radiographic abnormalities of the spine and chest. The precise genetic basis of JLS is not clear, hence diagnosis is usually made by typical clinical features such as malformed ribs which are malaligned, crowded, fused, and bifid with a posterior symmetric fusion of all the ribs at the costovertebral joints and flared anteriorly giving “crab-like” or “fan-like” appearance to the chest. Here, we report the case of a baby boy who presented with respiratory distress and was noted to have the characteristic skeletal abnormalities, which include congenital scoliosis with vertebral anomalies, multiple fused ribs with congenital heart disease large 7-mm apical ventricular septal defect (VSD), multiple mid-muscular VSD with increased pulmonary blood flow, 5 mm ostium secundum atrium septal defect, and left ventricular (LV) dilatation with LV failure. The diagnosis of JLS is made if there is a characteristic physical appearance with radiological findings in the clinical setting of thoracic insufficiency. In this case report, we intend to bring forth the learning point that, when a baby is presented with respiratory distress and vertebral, as well as, thoracic cage malformations, the diagnosis of JLS should be kept in mind, if left untreated there is a chance of respiratory failure and thereby making it potentially fatal.
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