title: Trichorhinophalangeal syndrome type 1: A case report with literature review.
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.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Mahatma Gandhi Medical College and Research Institute Campus, Pillaiyarkuppam, India.
authors.forename: Ramesh
authors.initials: R
authors.lastname: Candamourty
authors.forename: Suresh
authors.initials: S
authors.lastname: Venkatachalam
authors.forename: B
authors.initials: B
authors.lastname: Karthikeyan
authors.forename: M R Ramesh
authors.initials: MR
authors.lastname: Babu