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

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Volume Title

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.

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Indexed In MEDLINE

Keywords

Autism, Langer-Giedion Syndrome, Adolescent

Citation

Psychiatric Genetics.2018;28(3):55-57

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