ABSTRACT
We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI). Molecular analysis revealed a CA2 homozygous deletion (c.753delG, p.Asn252Thrfs*14) and confirmed the clinical diagnosis. This study suggests that AI can be another feature of CAII deficiency syndrome. For the first time, a CA2 disease-causing variant is reported to be associated with syndromic AI.
ABSTRACT
A capoterapia é uma vertente da capoeira e utiliza alguns dos seus elementos em atividade física orientada para idosos. Sua musicalidadeproporciona descontração e resgata a memória do folclore nacional.A atividade ressocializa o idoso, melhora a coordenação motora, a força muscular, a autoestima e diminui a depressão.
Capoterapia is a part of capoeira and uses some of its elementsin physical activity targeted for seniors. His musicality provides fun and brings back the memory of the national folklore. The activity reintegrating the elderly, improves coordination, muscle strength, self-esteem and decreases depression.
