PDF(Pubmed)
Abstract：
Childhood cataract is a common cause of visual impairment. Familial types are uncommon among Filipinos. Furthermore, it is not common to have one that follows an autosomal dominant pattern of inheritance but with associated syndromic presentation like Roberts syndrome which is an autosomal recessive disorder. This is a case of a 9-year-old Filipino boy with cataract in the left eye associated with low-set ears, facial asymmetry, underdeveloped nasal ala, cleft lip and palate, macroglossia, micrognathia, short right shin, and absent feet. Patient was clinically diagnosed with Roberts syndrome. We present a clinically diagnosed Roberts syndrome (RS), the first reported RS in a Filipino in local and international literature to our knowledge with an autosomal dominant childhood cataract. Genetic testing can assist in the confirmation of this case.
摘要：
儿童白内障是视觉障碍的常见原因。家族类型在菲律宾人中并不常见。此外，遵循常染色体显性遗传模式，但伴有相关的综合征表现，如Roberts综合征，这是一种常染色体隐性疾病，并不常见。这是一个9岁的菲律宾男孩，左眼患有白内障，耳朵低，面部不对称，鼻翼不发达，唇腭裂,巨舌,小颌畸形,短的右胫骨，和缺席的脚。患者临床诊断为Roberts综合征。我们提出了临床诊断的罗伯茨综合征（RS），据我们所知，在当地和国际文献中首次报道了菲律宾人患有常染色体显性遗传性儿童白内障的RS。基因检测可以帮助确认这种情况。
