Hypotonia and Prader Willi syndrome in the neonatal period

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Prader-Willi Syndrome

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

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Prader-Willi syndrome.

Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...

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Prader-willi Syndrome

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes on chromosome 15. It occurs in males and females, no matter what race. As an infant, PWS shows itself in weak muscle tone (hypotonia, Pic. 1), feeding difficulties, poor growth, and delayed development. In the beginning during childhood, characterizes itself by having the kids develop an insatiable appet...

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Prader-Willi syndrome and psychoses.

Prader-Willi syndrome (PWS) is associated with an insatiable appetite and (often) other maladaptive behaviours (self-injury, sleep disorders, insistence on routines, and temper tantrums). Psychoses are not a recognised feature. Most affected people have a chromosome 15 abnormality (deletion, disomy, structural rearrangement, etc.). Three people with PWS who developed psychotic disorders in earl...

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Diagnosis in Prader-Willi syndrome.

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular g...

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ژورنال

عنوان ژورنال: Genetics in Medicine

سال: 1999

ISSN: 1098-3600,1530-0366

DOI: 10.1097/00125817-199901000-00100