一名两岁男孩患帕利斯特-基利安综合征。
Pallister-Killian syndrome in a two-year-old boy.
作者信息
Stone Leigh, Tripuraneni Ramya, Bain Michelle, Hernandez Claudia
机构信息
Department of Dermatology University of Illinois at Chicago 808 South Wood Street Room 376 CME Chicago 60612 Illinois USA.
Department of Dermatology Northwestern University 676 North St. Clair Street Suite 1600 Chicago 60611 Illinois USA.
出版信息
Clin Case Rep. 2017 Apr 8;5(6):774-777. doi: 10.1002/ccr3.892. eCollection 2017 Jun.
Pallister-Killian syndrome (PKS) is a rare, sporadic, multisystem developmental disorder characterized by craniofacial dysmorphic features. We report a case of a two-year-old boy with PKS to highlight the cutaneous findings and emphasize the importance of diagnostic skin biopsies in patients with cutaneous pigmentation changes and distinctive facial features.
帕利斯特-基利安综合征（PKS）是一种罕见的、散发性的多系统发育障碍，其特征为颅面部畸形特征。我们报告一例患有PKS的两岁男孩病例，以突出皮肤表现，并强调对于有皮肤色素沉着变化和独特面部特征的患者进行诊断性皮肤活检的重要性。
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