Resumo

CRESPO VALLEJO, Dayssy Viviana; RODRIGUEZ PACHECO, Valeria Alexandra  e  RUIZ AYERVE, Mayra Alejandra. Síndrome de Morquio, una afección infrecuente. Rev Eug Esp [online]. 2021, vol.15, n.1, pp.66-72. ISSN 2661-6742.  https://doi.org/10.37135/ee.04.10.07.

Introduction: Morquio syndrome is a rare autosomal recessive hereditary disease, characterized by the presence of a carbohydrate metabolism disorder, generating a decrease in the quality of life. Clinical case: newborn of 37.6 weeks with APGAR 7-9, who shows signs of distal and oral cyanosis, accompanied by a decrease in oxygen saturation to 70% minutes after birth. Subsequently, the diagnostic suspicion of this disease was identified due to the phenotypic characteristics and clinical manifestations, which was corroborated by genetic study. Conclusions: The diagnosis of Morquio syndrome was established in the first moments of birth, the manifestations observed in the case presented were the classic ones reported in the medical literature, the genetic study confirmed the diagnosis.

Palavras-chave : Karyotype; Mucopolysaccharidosis IV; Transcription, Genetic.

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