Literature DB >> 3958020

The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.

C J Howell, R Wynne-Davies.   

Abstract

Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.

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Mesh：

Year:  1986        PMID： 3958020

Source DB:  PubMed          Journal:  J Bone Joint Surg Br        ISSN： 0301-620X


  10 in total

1.  Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Authors:  P Wordsworth; D Ogilvie; L Priestley; R Smith; R Wynne-Davies; B Sykes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

2.  Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells.

Authors:  Morgan Goss; Mairobys Socorro; Daisy Monier; Kostas Verdelis; Dobrawa Napierala
Journal:  Mol Genet Metab       Date:  2019-01-23       Impact factor: 4.797

3.  Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.

Authors:  Ramakrishna Narayanan; Srinivasa Chennareddy
Journal:  BMJ Case Rep       Date:  2015-01-27

4.  Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures.

Authors:  Praveen Konala; Nigel Kiely; Charlotte Noakes; Edward Blair; Victor N Cassar-Pullicino
Journal:  Pediatr Radiol       Date:  2017-05-10

5.  Langer-Giedion syndrome: the evolving imaging features in hands and beyond.

Authors:  Wai Kan Tsang; Kwok Wai Michael Yang; Chi Ming Fong
Journal:  Skeletal Radiol       Date:  2013-09-27       Impact factor: 2.199

6.  Tricho-rhino-phalangeal syndrome type I in a Belgian family.

Authors:  L A Verbruggen; C Van Laere; J Lamoureux; R Van Tiggelen
Journal:  Clin Rheumatol       Date:  1987-06       Impact factor: 2.980

7.  Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.

Authors:  Talat H Malik; Dietrich Von Stechow; Roderick T Bronson; Ramesh A Shivdasani
Journal:  Mol Cell Biol       Date:  2002-12       Impact factor: 4.272

Review 8.  Rare monogenetic syndromes in rheumatology practice.

Authors:  K Manger; H Nüsslein; G Schett; B Manger
Journal:  Clin Rheumatol       Date:  2009-02-18       Impact factor: 2.980

9.  Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Authors:  Carole Corsini; Martin Gencik; Marjolaine Willems; Eva Decker; Elodie Sanchez; Jacques Puechberty; Anouck Schneider; Manon Girard; Patrick Edery; Patricia Bretonnes; Jérôme Cottalorda; Geneviève Lefort; Claire Jeandel; Pierre Sarda; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-04-10       Impact factor: 4.246

10.  Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Authors:  Catarina Dias; Lara Isidoro; Mafalda Santos; Helena Santos; Jorge Sales Marques
Journal:  Case Rep Genet       Date:  2013-04-17
  10 in total

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