肢端骨溶解和面部畸形:一例新的Hajdu-Cheney综合征病例。

Pablo González del Pozo, Stefanie Burger, Estefanía Pardo Campo, Mercedes Alperi López, Rubén Queiro Silva, Sara Alonso Castro
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引用次数: 0

摘要

Hajdu-Cheney综合征或肢端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状骨溶解和面部畸形等。我们报告了一例45岁的男性患者,他因双手机械性关节疼痛、面部畸形、颅面改变和指骨伸缩伴肢端骨溶解而就诊。
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Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome

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.

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