[The Prader-Willi syndrome. A diagnostic update].
The authors analyze the clinical history of a 13-year-old boy with the diagnosis of Prader-Willi syndrome (PWS), who was studied in the Perinatal Pediatric Neurology and Clinical Genetics outpatient clinics, in the Social Security Arnulfo Arias Madrid Hospital Complex. The authors review the clinical characteristics that help in the diagnosis of PWS, in the neonatal period and therefore increase the rate of early diagnosis.
Vieto
E
E
Servicio de Pediatría-Neurología, Hospital Dr. Arnulfo Arias Madrid, Caja de Seguro Social.
Ward
J
J
Quetglas
P
P
D000293:Adolescent; D002884:Chromosomes, Human, Pair 15; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics
Síndrome de Prader-Willi. Actualizacion diagnostica.