Literature DB >> 104271

Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.

J J MacDessi, K Kozlowski, S Posen.   

Abstract

Two families with "new" types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in the first family and shortening of the hands and feet in the second.

Entities:  

Mesh：

Year:  1978        PMID： 104271     DOI： 10.1007/bf02386712

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


  11 in total

1.  Roentgen manifestations of hereditary metabolic diseases in childhood.

Authors:  F N SILVERMAN; G CURRARINO
Journal:  Metabolism       Date:  1960-03       Impact factor: 8.694

2.  Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers.

Authors:  R A Pfeiffer; G Jünemann; J Polster; H Bauer
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

3.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

4.  Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

Authors:  G R Fraser; A I Friedmann; P Maroteaux; A M Glen-Bott; U Mittwoch
Journal:  Arch Dis Child       Date:  1969-08       Impact factor: 3.791

5.  Spondyloepiphyseal dysplasia.

Authors:  J Spranger; L O Langer
Journal:  Birth Defects Orig Artic Ser       Date:  1974

6.  [Spondyloepiphyseal dysplasias with valgus deformity of the knee joints].

Authors:  K Kozlowski; K Fellmann; A Senger; E Prokop; W Kuczynski
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1971-09

7.  [The dominant spondyloepiphyseal dysplasia with particular involvement of the spine].

Authors:  K Kozlowski; J Trojanowska
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1971-09

8.  Hereditary dysplasia epiphysealis multiplex.

Authors:  K Kozlowski; E Lipska
Journal:  Clin Radiol       Date:  1967-07       Impact factor: 2.350

9.  A childhood syndrome of bone dysplasia, retinal detachment and deafness.

Authors:  R Roaf; J B Longmore; R M Forrester
Journal:  Dev Med Child Neurol       Date:  1967-08       Impact factor: 5.449

10.  Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

Authors:  J S O'Brien; E Gugler; A Giedion; U Wiessmann; N Herschkowitz; C Meier; J Leroy
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438
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  1 in total

1.  A family with multiple musculoskeletal abnormalities.

Authors:  K E Barber; P J Gow; K M Mayo
Journal:  Ann Rheum Dis       Date:  1984-04       Impact factor: 19.103
  1 in total

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