Author:

Keywords:

Abnormalities, Multiple, Central Nervous System, Contracture, Developmental Disabilities, Facies, Humans, Infant, Newborn, Intellectual Disability, Limb Deformities, Congenital, Male, Muscles, Syndrome, Science & Technology, Life Sciences & Biomedicine, Biotechnology & Applied Microbiology, Genetics & Heredity, Medical Ethics, Medicine, Research & Experimental, Research & Experimental Medicine, distal contractures, mental and growth retardation, trigonocephaly, periventricular lesions, pyruvate oxidation, mitochondrial, WHISTLING FACE, ARTHROGRYPOSIS, ANOMALIES, SEQUENCE, SIBS, 2203 Philosophy, 5001 Applied ethics

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.