Literature DB >> 1233427

The skull in metaphyseal chondrodysplasia type Jansen.

W Holthusen, J F Holt, M Stoeckenius.   

Abstract

For some reasons skull findings in Jansen's Metaphyseal Dysplasia have been largely neglected. A survey of the seven known cases (three of them being primarily observed and described by two of the authors) disclose important and constant alterations, namely pronounced basilar thickening and sclerosis, prominent supraorbital and zygomatic arches, underdevelopment of the paranasal sinuses with sclerosis of the adjacent bone, and hypoplasia of the mandible. These alterations give rise to distinct and fairly specific features. The relationship to other craniotubular disorders, such as craniodiaphyseal dysplasia, craniometaphyseal dysplasia, and frontometaphyseal dysplasia is discussed.

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Year:  1975        PMID: 1233427     DOI: 10.1007/bf01006898

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


  10 in total

1.  Metaphyseal chondrodysplasia of Jansen.

Authors:  P B GRAM; J L FLEMING; B FRAME; G FINE
Journal:  J Bone Joint Surg Am       Date:  1959-07       Impact factor: 5.284

2.  [Not Available].

Authors:  S WEIL
Journal:  Z Orthop Ihre Grenzgeb       Date:  1957

3.  Metaphysial dysostosis; report of a case.

Authors:  J A CAMERON; W B YOUNG; H A SISSONS
Journal:  J Bone Joint Surg Br       Date:  1954-11

4.  Metaphyseal chondrodysplasia calcificans. A report on two cases.

Authors:  S van Creveld; K Kozlowski; K Pietron; A van der Valk
Journal:  Br J Radiol       Date:  1971-10       Impact factor: 3.039

5.  Metaphyseal dysostosis, Jansen type.

Authors:  H Arroyo-Scotoliff
Journal:  J Bone Joint Surg Am       Date:  1973-04       Impact factor: 5.284

6.  Frontometaphyseal dysplasia.

Authors:  J F Holt; G R Thompson; I K Arenberg
Journal:  Radiol Clin North Am       Date:  1972-08       Impact factor: 2.303

7.  Metaphyseal dysostosis of Jansen.

Authors:  M B Ozonoff
Journal:  Radiology       Date:  1969-11       Impact factor: 11.105

8.  Metaphysial dysostosis. A late follow-up of the first reported case.

Authors:  W H de Haas; W de Boer; F Griffioen
Journal:  J Bone Joint Surg Br       Date:  1969-05

9.  Nomenclature for the constitutional (intrinsic) diseases of bone.

Authors: 
Journal:  Radiology       Date:  1971-06       Impact factor: 11.105

10.  [Metaphysis of the Jansen type. (Description of a case)].

Authors:  E Silva
Journal:  Chir Organi Mov       Date:  1966
  10 in total
  5 in total

Review 1.  The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.

Authors:  L M Calvi; E Schipani
Journal:  J Endocrinol Invest       Date:  2000-09       Impact factor: 4.256

2.  Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

Authors:  Sheela Nampoothiri; Eduardo Fernández-Rebollo; Dhanya Yesodharan; Thomas J Gardella; Eric T Rush; Craig B Langman; Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2016-07-13       Impact factor: 5.958

3.  Calcium metabolism in the Jansen type of metaphyseal dysplasia.

Authors:  K Kruse; C Schütz
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

4.  Murk Jansen's metaphyseal chondrodysplasia with long-term followup.

Authors:  K G Silverthorn; C S Houston; B P Duncan
Journal:  Pediatr Radiol       Date:  1987

5.  Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls.

Authors:  Heidi Arponen; Marjut Evälahti; Outi Mäkitie
Journal:  Front Endocrinol (Lausanne)       Date:  2021-12-10       Impact factor: 5.555

  5 in total

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