Literature DB >> 75637

Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland.

J Peltola, K Kuokkanen.   

Abstract

A family of 11 members with tricho-rhino-phalangeal syndrome (TRP syndrome) is described. The inheritance in five successive generations was autosomal dominant. The main features of the TRP syndrome noted were: sparse hair, pear-shaped nose and joint deformity with cone-shaped epiphyses at some of the middle phalanges of the hands.

Entities:  

Mesh:

Year:  1978        PMID: 75637

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   4.437


  4 in total

1.  A Danish kindred with tricho-rhino-phalangeal syndrome type I.

Authors:  C Gaardsted; E H Madsen; U Friedrich
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

2.  Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.

Authors:  S Noltorp; U L Kristoffersson; N Mandahl; L Stigsson; B Svensson; C O Werner
Journal:  Ann Rheum Dis       Date:  1986-01       Impact factor: 19.103

3.  Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

Authors:  A Hamers; P Jongbloet; G Peeters; J P Fryns; J Geraedts
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

4.  Trichorhinophalangeal syndrome type 1: A case report with literature review.

Authors:  Ramesh Candamourty; Suresh Venkatachalam; B Karthikeyan; M R Ramesh Babu
Journal:  J Nat Sci Biol Med       Date:  2012-07
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.