Chandradasa Miyuru, Williams Shehan
Department of Psychiatry, Faculty of Medicine, University of Kelaniya.
University Psychiatry Unit, Colombo North Teaching Hospital, Ragama, Sri Lanka.
Psychiatr Genet. 2018 Jun;28(3):55-57. doi: 10.1097/YPG.0000000000000195.
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka. Furthermore, we could only access one previous report of the same microdeletion, which was from an autopsy of a 36-week-old infant.
毛发鼻指综合征是一种罕见的遗传性疾病，具有毛发稀疏、球状鼻和短指这一典型临床三联征。已知有三种表型，其中长骨有外生骨疣的II型被称为朗格-吉迪恩综合征。在此，我们描述一名患有朗格-吉迪恩综合征和高功能自闭症的28岁斯里兰卡男性。核型分析发现8号染色体长臂存在微缺失并伴有嵌合体[46,XY/46,XY,del(8)(q24.1q24.3)]。这可能是关于朗格-吉迪恩综合征合并自闭症的首例报告，也是来自斯里兰卡的该遗传综合征的首例报告。此外，我们仅能找到一份关于同一微缺失的既往报告，该报告来自一名36周龄婴儿的尸检。
