Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

S B Wortmann; R Rodenburg; B Schwahn; J A M Smeitink; E Morava

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

Genet Couns. 2007;18(1):119-23.

Authors

S B Wortmann¹, R Rodenburg, B Schwahn, J A M Smeitink, E Morava

Affiliation

¹ Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands.

PMID: 17515308

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Central Nervous System / abnormalities
Contracture / congenital
Developmental Disabilities*
Facies
Humans
Infant, Newborn
Intellectual Disability*
Limb Deformities, Congenital*
Male
Muscles / abnormalities
Syndrome