Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
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中粒发育不良伴腓骨缺失和六指畸形：尼弗格尔特综合征还是新综合征？
DOI：
10.1002/ajmg.1320370104
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Hirschhorn,K
中科院分区：
文献类型：
--
作者：
Petrella,R;Ludman,MD;Rabinowitz,JG;Gilbert,F;Hirschhorn,K
中端发育不良是一种短肢侏儒症，其特征是所有肢体的中间部分不成比例地短。这类骨骼疾病包括Nievergelt综合征，其典型表现为胫骨和腓骨呈菱形，不寻常的足部畸形，桡尺关节闭锁以及肘关节和膝关节发育不良。我们描述了一个患者中膜发育不良的发现提示尼弗格尔特综合征和缺乏腓骨和六指形。
Mesomelic dysplasia is a form of short‐limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radio‐ulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.