The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and peculiar dysmorphism: micrognathia with chubby cheeks, small hands and right cryptorchidism. In the suspect of Prader-Willi syndrome, DNA methylation test confirmed the diagnostic hypothesis. The simultaneous presence of neonatal hypotonia, poor suck and peculiar dysmorphism should suggest Prader-Willi syndrome and thus the performance of the DNA methylation test to confirm the diagnosis for a timely and adequate therapeutic work-up.

Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi / Bariola, Maria Carolina; Vaccina, E.; Lugli, L.; Berardi, A.; Lucaccioni, L.; Iughetti, L.; F. Ferrari.,. - In: MEDICO E BAMBINO. - ISSN 1591-3090. - 38:(2019), pp. 52-54.

Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi

Bariola, Maria Carolina
Writing – Original Draft Preparation
;
E. Vaccina
Writing – Original Draft Preparation
;
A. Berardi
Writing – Review & Editing
;
L. Lucaccioni
Writing – Review & Editing
;
L. Iughetti
Writing – Review & Editing
;
2019

Abstract

The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and peculiar dysmorphism: micrognathia with chubby cheeks, small hands and right cryptorchidism. In the suspect of Prader-Willi syndrome, DNA methylation test confirmed the diagnostic hypothesis. The simultaneous presence of neonatal hypotonia, poor suck and peculiar dysmorphism should suggest Prader-Willi syndrome and thus the performance of the DNA methylation test to confirm the diagnosis for a timely and adequate therapeutic work-up.
38
52
54
Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi / Bariola, Maria Carolina; Vaccina, E.; Lugli, L.; Berardi, A.; Lucaccioni, L.; Iughetti, L.; F. Ferrari.,. - In: MEDICO E BAMBINO. - ISSN 1591-3090. - 38:(2019), pp. 52-54.
Bariola, Maria Carolina; Vaccina, E.; Lugli, L.; Berardi, A.; Lucaccioni, L.; Iughetti, L.; F. Ferrari.,
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1170074
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