DSpace

DSpace at RU >    University Library >    Academic bibliography >

SFX Query

Title: Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
Author(s): Wortmann, S.B.
Rodenburg, R.J.T. (148271820)
Schwahn, B.
Smeitink, J.A.M. (097665606)
Morava, E. (298976846)
Publication year: 2007
Document type: Article / Letter to editor
Journal: Genetic Counseling
ISSN: 1015-8146
Volume: vol. 18
Issue: iss. 1
Start page: p. 119
End page: p. 123
Abstract: We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.
Subject: UMCN 5.3: Cellular energy metabolism
Organization: UMCN Extern
Paediatrics
Appears in Collections:Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/52373

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  DSpace Software Copyright © 2002-2011  Duraspace - Feedback