Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
Publication year
2007Source
Genetic Counseling, 18, 1, (2007), pp. 119-23ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Journal title
Genetic Counseling
Volume
vol. 18
Issue
iss. 1
Page start
p. 119
Page end
p. 23
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; IGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolism; UMCN 5.3: Cellular energy metabolismAbstract
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.
This item appears in the following Collection(s)
- Academic publications [232002]
- Faculty of Medical Sciences [89012]
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