RELATO DE CASO CLÍNICO – SÍNDROME DE COCKAINE
2017
This article is a report of a case of an eight-year-old boy sought to College Hospital of Sergipe with extreme desnutrition, microcephaly and delay psychomotor, phenotypes of the syndrome. It has an estimated incidence of 1 for 200.000 newborns and is characterized by ‘cachectic dwarfism’, abnormal and slow growth and development, cutaneous photosensitivity, retinopathy – ‘pepperand-salt’ chorioretinitis, a progeroid appearance, thin, dry hair, progressive pigmentary sensorineural hearing loss and dental caries. Diagnostic is important and can improves quality of life in these individuals.
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