Ramesh Candamourty1, Suresh Venkatachalam1, B Karthikeyan1, MR Ramesh Babu2
1Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Mahatma Gandhi Medical College and Research Institute Campus, Pillaiyarkuppam, India.
2Department of Oral and Maxillofacial Surgery, Mahatma Gandhi Post Graduate Institute of Dental Science, Pondicherry, India.
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.
Keywords: Cone-shaped epiphyses, chromosome 8q 24.12, Herthoge′s sign, supernumerary teeth, trichorhinophalangeal syndrome type 1.