HET PRADER-WILLI-SYNDROOM BIJ DE JONGE ZUIGELING

1997 
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.
    • Correction
    • Cite
    • Save
    • Machine Reading By IdeaReader
    0
    References
    1
    Citations
    NaN
    KQI
    []