Literature DB >> 7341639

New clinical observations in the trichorhinophalangeal syndrome.

R M Goodman, R Trilling, M Hertz, H Horoszowski, P Merlob, S Reisner.   

Abstract

Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.

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Year:  1981        PMID: 7341639

Source DB:  PubMed          Journal:  J Craniofac Genet Dev Biol        ISSN: 0270-4145


  7 in total

1.  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

2.  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

3.  The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report.

Authors:  Ahmed Ghoneima; Kanwar Sachdeva; James Hartsfield; David Weaver; Katherine Kula
Journal:  J Orthod       Date:  2013-03

4.  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

5.  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

6.  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

7.  Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report.

Authors:  Shakil Ahmed Nagori; Anson Jose; Bhaskar Agarwal; Krushna Bhatt; Ongkila Bhutia; Ajoy Roychoudhury
Journal:  J Med Case Rep       Date:  2014-11-25
  7 in total

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