Literature DB >> 3627861

Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome.

S Jequier, K Kozlowski.   

Abstract

Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.

Entities:  

Mesh：

Year:  1987        PMID： 3627861     DOI： 10.1007/BF02396618

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


  9 in total

1.  Metachondromatosis: report of a case in a 6 year old boy.

Authors:  K Kozlowski; J S Scougall
Journal:  Aust Paediatr J       Date:  1975-03

2.  [Unusual syndrome with acceleration of skeletal maturation (Marshall's syndrome). 1st case in the Italian literature].

Authors:  E De Toni; M T Duillo; T De Toni; M Cortese; F Bergamo
Journal:  Minerva Pediatr       Date:  1976-07-28       Impact factor: 1.312

3.  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

Authors:  D D Weaver; C B Graham; I T Thomas; D W Smith
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  Radiographic findings in hypothalamic acceleration of growth associated with cerebral atrophy and mental retardation (cerebral gigantism).

Authors:  A K Poznanski; J M Stephenson
Journal:  Radiology       Date:  1967-03       Impact factor: 11.105

5.  Cerebral gigantism of hypothalamic origin.

Authors:  M B Ranke; J R Bierich
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183

6.  [Cerebral gigantism. Clinical and biological study of 5 cases].

Authors:  I Pascual-Castroviejo; E Junco Aguado
Journal:  Minerva Pediatr       Date:  1973-09-01       Impact factor: 1.312

7.  Accelerated bone maturation syndrome of the Weaver type.

Authors:  P H Weisswichert; G Knapp; E Willich
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

8.  [Acceleration of bone maturation in the newborn with facial dysmorphia: Marshall-Smith's syndrome (author's transl)].

Authors:  J L Ferran; Y Delcor; J P Sénac; M Broche
Journal:  J Radiol Electrol Med Nucl       Date:  1978-10

9.  Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.

Authors:  J P Johnson; J C Carey; F J Glassy; T Paglieroni; M H Lipson
Journal:  Pediatrics       Date:  1983-02       Impact factor: 7.124
  9 in total

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