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Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1.

These are non-specific features and are present in the Prader-Willi syndrome (PWS) and many other conditions. The authors themselves state that their patients lack the typical features of PWS, which are low birth weight, neonatal hypotonia, narrow bifrontal diameter, hypogonadism, short stature, and feeding problems during the first year of life followed by hyperphagia and obesity in early childhood. In contrast, patients 1 to 7 developed severe obesity between the ages of 5 and 10 years without a change in diet. None of the patients fulfils the diagnostic criteria described by Holm et al.2 Although we agree that obese and mentally retarded boys should be tested for the fragile X syndrome, we feel that this phenotype should not be described as "Prader-Willi-like". This description is misleading and confusing, because all of the typical features of PWS are absent in the patients described by de Vries et al.' Careful use of the terms "Prader-Willi syndrome" and "PraderWilli-like" is important, because the syndrome is overdiagnosed by geneticists and paediatricians who are not familiar with the specific features of PWS. Although PWS can be rapidly tested for at the DNA level,3 careful clinical distinction of this syndrome from other conditions is necessary. In conclusion, we suggest that obesity should be included as an important feature in the fragile X syndrome and the term "Prader-Willi-like" should be avoided.