Patient (condition)
Aliases:
Topic aliases are alternate phrasings for a particular topic.
Prada Willi Syndrome
Praderwilli
Pradawilli
Willi prader syndrome
Willi-prader syndrome
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother ( UNIPARENTAL DISOMY) which are imprinted ( GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Improve to correct grammar or spelling, but do not significantly alter the substance of the original author's text.
Cancel
Endorsed by
,
more...
Private
only
only
Dec 12, 2012