High-functioning autism in a Sri Lankan youth with High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome.
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Date
2018
Authors
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Journal ISSN
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Publisher
Lippincott Williams & Wilkins
Abstract
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.
Description
Indexed In MEDLINE
Keywords
Autism, Langer-Giedion Syndrome, Adolescent
Citation
Psychiatric Genetics.2018;28(3):55-57