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 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.

[1]  J. Fryns,et al.  8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I , 1986, Human Genetics.

[2]  E. Bröcker,et al.  Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case. , 2001, Archives of dermatology.

[3]  N. Niikawa,et al.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. , 2001, American journal of human genetics.

[4]  R. Hennekam,et al.  Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I , 2000, Nature Genetics.

[5]  B. Horsthemke,et al.  The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions , 1997, Human Genetics.

[6]  K. Jones,et al.  Smith's Recognizable Patterns of Human Malformation , 1996 .

[7]  M. Miyao,et al.  Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I. , 1989, American journal of medical genetics.

[8]  M. Miyao,et al.  Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. , 1989, American journal of medical genetics.

[9]  N. Niikawa,et al.  The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. , 1986, American journal of medical genetics.

[10]  H. Wiedemann,et al.  [Trichorhinophalangeal syndrome type I]. , 1982, Die Medizinische Welt.

[11]  K. Kuokkanen,et al.  Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland. , 1978, Acta dermato-venereologica.

[12]  T. Meloni,et al.  Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. , 1973, Helvetica paediatrica acta.

[13]  A. Gaucher,et al.  [Tricho-rhino-phalangeal syndrome]. , 1971, La Presse medicale.