Meena Jagdish P, Gupta Ajay, Mishra Devendra, Juneja Monica
Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.
J Pediatr Orthop B. 2015 May;24(3):226-9. doi: 10.1097/BPB.0000000000000121.
Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia. It has similarities to Marfan syndrome (MFS) in many respects. It has much fewer incidences of eye and heart anomalies compared with MFS. Beals syndrome is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; MFS is caused by mutations in fibrillin-1. With time, there is spontaneous improvement in joint contractures, but kyphosis tends to be progressive. The neonatal form results from new mutations and tends to be severe. Prenatal molecular diagnosis is possible. Ultrasound could be used to demonstrate hypokinesia and joint contractures in presumptive cases. We present a case of a patient with Beals syndrome who presented to the emergency department with pneumonia and was found to have narrowing of the foramen magnum, with partial fusion of C2-C3 vertebral bodies. To our knowledge, this has not been documented in the literature and could be characteristic in relation to Beals syndrome.
比尔斯综合征是一种常染色体显性结缔组织疾病，其特征为多处关节挛缩、蜘蛛指（趾）、严重脊柱后凸侧弯、皱缩耳和肌肉发育不全。在许多方面，它与马方综合征（MFS）相似。与马方综合征相比，其眼部和心脏异常的发生率要低得多。比尔斯综合征由位于5q23的原纤蛋白-2基因（FBN2）突变引起；马方综合征由原纤蛋白-1突变引起。随着时间推移，关节挛缩会自发改善，但脊柱后凸往往会进展。新生儿型由新的突变导致，往往病情严重。产前分子诊断是可行的。在疑似病例中，超声可用于显示运动功能减退和关节挛缩。我们报告一例比尔斯综合征患者，该患者因肺炎就诊于急诊科，发现存在枕骨大孔狭窄以及C2-C3椎体部分融合。据我们所知，这在文献中尚无记载，可能是比尔斯综合征的特征表现。
