[Prader-Willi syndrome in a young infant].
Four children aged 2.5 years, 15.7 and 7 months, including a pair of twins, after birth displayed hypotonia which necessitated tube feeding. Other features were a narrow forehead and a thin triangular upper lip, but these abnormalities were not conspicuous. An extensive supplementary examination for cerebral and muscular disorders initially failed to produce a diagnosis. It was only when the Prader-Willi syndrome was suspected and a corresponding abnormality on chromosome 15 was looked for that this diagnosis could be made. Early diagnosis of this syndrome will avoid further invasive diagnostic procedures and make early treatment possible.
Hack
W W
WW
Medisch Centrum Alkmaar, Afd. Kindergeneeskunde.
ten Houten
R
R
Breslau-Suderius
E J
EJ
Halley
D J
DJ
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000302:isolation & purification; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics
D004247:DNA