Literature DB >> 2717253

Peripheral dysplasia. Report of a new genetic syndrome.

L Bacha1, L Brachimi, K Kozlowski, R Massen, L Morris.   

Abstract

A new, dominantly inherited form of peripheral dysplasia in three members of an Algerian family is reported. Two further individuals, not investigated, are also probably affected. The disease is characterised by distinctive clinico-radiological findings. A case of acromesomelic dysplasia of Maroteaux is also reported and the differential diagnosis of peripheral dysplasias is discussed.

Entities:  

Mesh：

Year:  1989        PMID： 2717253     DOI： 10.1007/BF02388655

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  10 in total

1.  Peripheral dysostosis.

Authors:  E B SINGLETON; C W DAESCHNER; C T TENG
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1960-09

2.  The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.

Authors:  A K Poznanski; E A Werder; A Giedion; A Martin; H Shaw
Journal:  Radiology       Date:  1977-06       Impact factor: 11.105

3.  Peripheral dysostosis: an autosomal recessive form.

Authors:  R M Goodman; U Weinberg; M Hertz; T Rosenthal; R Hertz
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  [Acrodysostosis].

Authors:  P Maroteaux; G Malamut
Journal:  Presse Med       Date:  1968-11-27       Impact factor: 1.228

5.  [Peripheral dysostosis (PD)--a collective concept].

Authors:  A Giedion
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1969-04

6.  Roentgenographic manifestations of hereditary peripheral dysostosis.

Authors:  D S Newcombe; T E Keats
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1969-05

7.  [Acromesomelic dwarfism].

Authors:  P Maroteaux; B Martinelli; E Campailla
Journal:  Presse Med       Date:  1971-10-09       Impact factor: 1.228

8.  Hereditary peripheral dysostosis (three cases).

Authors:  R K Bachman
Journal:  Proc R Soc Med       Date:  1967-01

9.  Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Authors:  M Robinow; R A Pfeiffer; R J Gorlin; V A McKusick; A W Renuart; G F Johnson; R L Summitt
Journal:  Am J Dis Child       Date:  1971-03

10.  Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.

Authors:  R C Ablow; Y E Hsia; I K Brandt
Journal:  AJR Am J Roentgenol       Date:  1977-01       Impact factor: 3.959
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.