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Trichorhinophalangeal syndrome type 1: A case report with literature review
Ramesh Candamourty1, Suresh Venkatachalam, B Karthikeyan
1Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Mahatma Gandhi Medical College and Research Institute Campus, Pillaiyarkuppam, India.
Abstract:
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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