Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
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.
Wortmann
S B
SB
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands.
Rodenburg
R
R
Schwahn
B
B
Smeitink
J A M
JA
Morava
E
E
D000015:Abnormalities, Multiple; D002490:Central Nervous System / Q000002:abnormalities; D003286:Contracture / Q000151:congenital; D002658:Developmental Disabilities; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital; D008297:Male; D009132:Muscles / Q000002:abnormalities; D013577:Syndrome