Trichorhinophalangeal syndrome type 1: A case report with literature review

Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible...

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Published in:Journal of natural science, biology and medicine biology and medicine, 2012-07, Vol.3 (2), p.209-209
Main Authors: Candamourty, Ramesh, Venkatachalam, Suresh, Karthikeyan, B, Babu, M R Ramesh
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Language:English
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Care and treatment
Case Report
Case studies
Diagnosis
Langer-Giedion syndrome
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Venkatachalam, Suresh
Karthikeyan, B
Babu, M R Ramesh
description Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible in radiographs. Type I is the most common. Type II is characterized by the development of multiple bony exostoses and frequently, mental disability. Type III is a more severe form of type I and is associated with short stature. This report presents a 28-year-old man who had the characteristic features of type I with the presence of multiple erupted supernumerary teeth with normal mentation and karyotyping with high resolution G banding displayed normal chromosomal complements.
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subjects Care and treatment
Case Report
Case studies
Diagnosis
Langer-Giedion syndrome
title Trichorhinophalangeal syndrome type 1: A case report with literature review
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