A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
复制标题
一种新形式的骨骼发育不良，伴有釉质形成不全和扁椎病
作者：
A. Verloes;P. Jamblin;L. Koulischer;J. Bourguignon
我们报告两个病人，出生的近亲父母，受影响的一种疾病导致轻度生长迟缓。其特征是无髓性不完全性（缺少牙釉质帽）与短肌样畸形相关：椎弓形椎弓根短，椎间和椎弓根间距离窄，矩形椎骨后呈扇形，核突出，股骨颈宽。遗传表现为常染色体隐性遗传。
We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia‐like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular‐shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.