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A new family with epiphyseal chondrodysplasia type Miura
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-10-19 , DOI: 10.1002/ajmg.a.61923
Vladimir Kenis 1 , Eugeniy Melchenko 1 , Ilya Mazunin 2, 3 , Minna Pekkinen 4, 5, 6 , Outi Mäkitie 4, 5, 6, 7
Affiliation  

Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter). The mother's phenotype was relatively mild: borderline tall stature and elongated halluces operated during childhood. The children were remarkably more severely affected with tall stature, scoliosis, and elongated toes and fingers leading to suspicion of Marfan syndrome. Progressive valgus deformities (at the hips, knees, and ankles) were the main complaints and necessitated orthopedic investigations and surgery. Radiographs showed coxa valga, scoliosis, multiple pseudoepiphyses of the fingers and toes with uneven elongation of the digits and ankle valgus. The two older brothers underwent osteotomies and guided growth for axial deformities and arthrodesis for elongated halluces. Genetic testing confirmed the clinical diagnosis of ECDM: all affected individuals had a heterozygous c.2647G>A (p.Val883Met) NPR2 variant in a highly conserved region in the carboxyl‐terminal guanylyl cyclase domain. This two‐generation family elucidates the clinical and radiological variability of the disease. These rare cases are important to gain further understanding of the fundamental processes of growth regulation.

中文翻译:

三浦骨epi软骨发育不良的新家族

骨软骨发育不良,Miura型(ECDM)是由杂合性NPR2引起的高身形和独特骨骼特征的骨骼发育不良致病变体。据报道只有四个家庭。我们介绍了一个家庭,其中有五个受影响的人(母亲,三个儿子和女儿)。母亲的表型相对温和:在儿童时期就开始使用边缘高大的身材和细长的幻觉。这些孩子受身材高大,脊柱侧弯,脚趾和手指拉长的影响更为严重,导致怀疑马凡氏综合症。进行性外翻畸形(在臀部,膝盖和脚踝处)是主要的不适症状,因此需要骨科检查和手术。X线片显示髋外翻,脊柱侧弯,手指和脚趾多处假性表pi,手指和脚踝外翻不均匀。两位哥哥接受了截骨术,并因轴向畸形而接受了引导生长,并因长的幻觉而进行了关节固定术。NPR2变异体位于羧基末端鸟苷酸环化酶结构域的高度保守区域。这个由两代人组成的家族阐明了该疾病的临床和放射学变异性。这些罕见的情况对于进一步了解增长调节的基本过程很重要。
更新日期:2020-12-17
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