关键词: Acroosteolysis Acroosteólisis Hajdu-Cheney syndrome NOTCH2 Síndrome Hajdu-Cheney

Mesh : Male Humans Middle Aged Hajdu-Cheney Syndrome / diagnosis diagnostic imaging Acro-Osteolysis / diagnostic imaging etiology Hand Rare Diseases

来  源:   DOI:10.1016/j.reumae.2023.10.001

Abstract:
Hajdu-Cheney syndrome or acro-dento-osteo-dysplasia syndrome is a rare disease characterized by band osteolysis of distal phalanges and facial dysmorphia, among other manifestations. We present the case of a 45-year-old male who consulted for mechanical joint pain of both hands, facial dysmorphism, cranio-facial alterations, and digital telescoping with acroosteolysis.
摘要:
Hajdu-Cheney综合征或节骨发育不良综合征是一种罕见的疾病,其特征是远端指骨带溶解和面部畸形,在其他表现中。我们介绍了一名45岁的男性,他因双手机械性关节痛而咨询,面部畸形,颅面改变,和肢端骨溶解的数字伸缩。
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