CASE REPORT
Year : 2012  |  Volume : 3  |  Issue : 2  |  Page : 209-211

Trichorhinophalangeal syndrome type 1: A case report with literature review


1 Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Mahatma Gandhi Medical College and Research Institute Campus, Pillaiyarkuppam, India
2 Department of Oral and Maxillofacial Surgery, Mahatma Gandhi Post Graduate Institute of Dental Science, Pondicherry, India

Correspondence Address:
Ramesh Candamourty
Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Mahatma Gandhi Medical College and Research Institute Campus, Pillaiyarkuppam, Pondicherry 607 402
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0976-9668.101936

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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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