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Comparative Study
. 1993 Feb;91(2):398-402.

Prader-Willi syndrome: consensus diagnostic criteria

V A Holm  1 , S B Cassidy, M G Butler, J M Hanchett, L R Greenswag, B Y Whitman, F Greenberg
Affiliations
Comparative Study

Prader-Willi syndrome: consensus diagnostic criteria

V A Holm et al. Pediatrics. 1993 Feb.

Abstract

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating, result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.

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Figures

Figure.
Figure.
Composite drawing of facial features in Prader-Willi syndrome.
See this image and copyright information in PMC

References

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