Literature DB >> 3621840

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

L A Verbruggen, C Van Laere, J Lamoureux, R Van Tiggelen.   

Abstract

We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.

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Year:  1987        PMID: 3621840     DOI: 10.1007/bf02201022

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   2.980


  23 in total

1.  Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1979-02-26

2.  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

3.  [The tricho-rhino-phalangeal syndrome].

Authors:  G Fontaine; P Maroteaux; J P Farriaux; J Richard; B Roelens
Journal:  Arch Fr Pediatr       Date:  1970 Jun-Jul

4.  [Tricho-rhino-phalangeal syndrome treated as juvenile chronic arthritis].

Authors:  D Mozolová; J Bircák; A Baxová; V Izakovic; E Prúnyi
Journal:  Cesk Pediatr       Date:  1984-03

5.  [A case of tricho-rhino-phalangeal syndrome].

Authors:  E Colombo; C Negri; G Leigheb
Journal:  G Ital Dermatol Venereol       Date:  1984 Nov-Dec       Impact factor: 2.011

6.  Tricho-rhino-phalangeal syndrome associated with Perthes-disease-like bone change and spondylolisthesis.

Authors:  Y Sugiura
Journal:  Jinrui Idengaku Zasshi       Date:  1978-03

7.  [Trichorhinophalangeal syndrome (Giedion)].

Authors:  J Ferrando; J A Del Olmo; J Bassas; E Fernández; R Fontarnau
Journal:  Med Cutan Ibero Lat Am       Date:  1981

8.  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

9.  [Tricho-rhino-phalangeal syndrome].

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

10.  The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

Authors:  E M Bühler; N J Malik
Journal:  Am J Med Genet       Date:  1984-09
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