Nanda Arti, Al-Ateeqi Wafa A, Al-Khawari Mona A, Alsaleh Qasem A, Anim Jeoram T
As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
Pediatr Dermatol. 2010 Mar-Apr;27(2):156-61. doi: 10.1111/j.1525-1470.2010.01100.x.
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.
生长迟缓、脱发、假性无牙症、视神经萎缩(GAPO)综合征是一种罕见的常染色体隐性疾病。该疾病的分子本质尚未完全明确,被认为是外胚层发育异常缺陷之一。在本报告中,我们描述了一对近亲结婚父母所生的两个兄弟姐妹的临床、组织学和超微结构特征,并对相关文献进行简要综述。