Review of Prader-Willi syndrome: the endocrine approach
نویسندگان
چکیده
منابع مشابه
Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed t...
متن کاملEndocrine manifestations and management of Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. In infancy it is characterized by hypotonia with poor suck resulting in failure to thrive. As the child ages, other manifestations such as developmental delay, cognitive disability, and behavior problems become evident. Hypothalamic dysfunction has...
متن کاملPrader-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...
متن کاملPrader-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...
متن کاملPrader-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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ژورنال
عنوان ژورنال: Translational Pediatrics
سال: 2017
ISSN: 2224-4336,2224-4344
DOI: 10.21037/tp.2017.09.04