Literature DB >> 1270080

Tricho-rhino-phalangeal syndrome. The first case in Japan.

N Fukushima, M Anakura, S Arashima, I Matsuda, T Ohsawa.   

Abstract

The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.

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Mesh：

Year:  1976        PMID： 1270080     DOI： 10.1007/BF00291506

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  [Peculiar constitutional anomalies in 2 sisters and their relations to recent findings in evolutional pathology].

Authors:  G KLINGMULLER
Journal:  Hautarzt       Date:  1956-03       Impact factor: 0.751

2.  Ectodermal dysplasia, achondrodysplasia, and congenital morbus cordis.

Authors:  D P R KEIZER; J H SCHILDER
Journal:  AMA Am J Dis Child       Date:  1951-09

3.  Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

Authors:  A Giedion; M Burdea; Z Fruchter; T Meloni; V Trosc
Journal:  Helv Paediatr Acta       Date:  1973-07

4.  Tricho-rhino-phalangeal syndrome.

Authors:  R J Gorlin; M M Cohen; J Wolfson
Journal:  Am J Dis Child       Date:  1969-10

5.  Cone-shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome.

Authors:  A Giedion
Journal:  Ann Radiol (Paris)       Date:  1967

6.  [Tricho-rhino-phalangeal syndrome].

Authors:  A Giedion
Journal:  Helv Paediatr Acta       Date:  1966-11
  6 in total

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