Diagnosis in Prader-Willi syndrome.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 7826116.
- Also identified by PMC identifier 1030061.
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Abstract
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 genetic studies.
Medical subject headings
- Prader-Willi Syndrome