Noonan syndrome: case presentation
Abstract
Introduction: Noonan Syndrome is a monogenic disease of autosomal dominant inheritance and highly variable clinical expression, little known, produced by a mutation in chromosome 12q22.
Objective: To present the case of a newborn with phenotypic characteristics of Noonan Syndrome.
Clinical case: A case is presented of a white, male newborn product of dystocic cesarean delivery due to polyhydramnios and Doppler flowmetry altered at 37.1 weeks, who was born vigorous with facial and thoracic dysmorphic features for which he was admitted to neonatology.
Conclusions: Noonan Syndrome is a rare disease characterized by phenotypic variations similar to those of Turner Syndrome and its diagnosis is based on the clinical method and genetic counseling.
DeCS: NOONAN SYNDROME/diagnostic imaging; DNA COPY NUMBER VARIATIONS; NEONATOLOGY; FACIAL ASYMMETRY/congenital; CASE REPORTS.
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References
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