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Coarse face, hypotonia, and neurodevelopmental regression

Miranda,Ana Margalha; Ezequiel,Marta; Luís,Catarina; Dupont,Juliette; Gaspar,Paulo; Vilarinho,Laura; Janeiro,Patrícia; Gaspar,Ana

Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age o...

Date: 2020 | Origin: SciELO Portugal

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