Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
SourceGenetic Counseling, 18, 1, (2007), pp. 119-23
Article / Letter to editor
Display more detailsDisplay less details
Paediatrics - OUD tm 2017
SubjectIGMD 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 metabolism
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.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.