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Prader-Willi Syndrome FREE

Julius Landwirth, MD; A. Herbert Schwartz, MD; Jerome A. Grunt, MD, PhD
[+] Author Affiliations

Received for publication Oct 27, 1967.

Reprint requests to Yale-New Haven Medical Center, 789 Howard Ave, New Haven, Conn 06504 (Dr. Landwirth).


Am J Dis Child. 1968;116(2):211-217. doi:10.1001/archpedi.1968.02100020213017.
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IN 1956 Prader et al1 first reported nine cases of a new syndrome. The symptom complex evolves to its full expression over a number of years. The prenatal course is usually uneventful, except for decreased fetal activity. Infants are born at term with a low birth weight. Shortly after birth, extreme weakness with generalized muscular hypotonia, poor suck, and weak cry become evident. The period is marked by difficult feeding and episodes of hypoxia. After several weeks to months of failure to thrive, there is gradual improvement in strength accompanied by more vigorous feeding and accelerated weight gain. By 2 years of age obesity has supervened, while delay in psychomotor development is apparent. Subsequently, there develops extraordinary obesity with hyperphagia, and, in addition, short stature, hypoplastic genital organs, and delayed puberty. By this time the patients present a striking clinical picture, with extreme adiposity distributed predominantly over the lower

REFERENCES

Prader, A.; Labhart, A.; and Willi, H.:  Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie Nach Myotonieartigem Zustand im Neugeborenenalter , Schweiz Med Wschr 86:1260 ( (March) ) 1956;.
Nelson, N.:  A Photometric Adaptation of the Somogyi Method for Determination of Glucose , J Biol Chem 153:375-380 ( (May) ) 1944;.
Dole, V.P.:  A Relation between Non-Esterified Fatty Acids in Plasma and the Metabolism of Glucose , J Clin Invest 35:150-154 ( (Feb) ) 1956;.
Soeldner, J.S., and Slone, D.:  Critical Variable in the Radio-Immunoassay of Serum Insulin Using the Double Antibody Technique , Diabetes 14:771-779 ( (Dec) ) 1965;.
Boden, G., and Soeldner, J.S.: A Sensitive Double Antibody Radio-Immunoassay for Human Growth Hormone (H.G.H.): Following Rapid Tolbutamide Infusion, to be published.
Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3, Springfield, Ill: Charles C Thomas, Publisher, 1965;.
Dunn, H.G., et al:  Benign Congenital Hypotonia With Chromosomal Anomaly , Pediatrics 28: 578-591 ( (Oct) ) 1961;.
Laurance, B.M.:  Hypotonia, Mental Retardation, Obesity and Cryptorchidism Associated With Dwarfism and Mental Retardation , Arch Dis Child 42:126-139 ( (April) ) 1967;.
Prader, A., and Willi, H.: " Das Syndrome von Imbezillitat, Adipositas, Muskelhypotonie, Hypogenitalismus, Hypogonadismus und Diabetes Mellitus mit 'Myatonie' Anamnese ," Verh 2int Kongr Psych Entw-Stor Kindes-Alt Wien 1961 , (part 1) , 1963;, pp 353-357.
Larbre, F., et al:  Une Observation de Syndrome de Willi, Prader et Labhart , Pediatric 20: 349-351 ( (April) -May) 1965;.
Roget, J., et al:  Syndrome Associant Adiposite Chryptochidie et Retard Mental Accompagne D'une Aberration Chromosomique Pediatric 20:295-300 ( (April) -May) 1965;.
Evans, P.R.:  Hypogenital Dystrophy With Diabetic Tendency , Guy's Hospital Report 113:207-222, 1964;.
Forssman, H., and Hagberg, B.,  Prader-Willi Syndrome in a Boy of Ten With Pre-Diabetes , Acta Pediat 53:70-77, ( (Jan) ) 1964;.
Royer, P.:  Le Diabete Sucre Dans Le Syndrome de Willi-Prader , Journees Ann Diabet Hotel Dieu 4:91-99, 1963;.
Walton, J.M.:  Amyotonia Congenita: Follow-up Study , Lancet 2:1023 ( (June 30) ) 1956;.
Johnsen, S.; Crawford, J.D.; and Haessler, H.A.: Fasting Hyperlipogenesis: An Inborn Error of Energy Metabolism in Prader-Willi Syndrome, American Pediatric Society Abstract, 1967, p 2.
Feingold, M.: Yearbook of Pediatrics , Chicago: Yearbook Medical Publishers, 1966-1967;, p 329.

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References

Prader, A.; Labhart, A.; and Willi, H.:  Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie Nach Myotonieartigem Zustand im Neugeborenenalter , Schweiz Med Wschr 86:1260 ( (March) ) 1956;.
Nelson, N.:  A Photometric Adaptation of the Somogyi Method for Determination of Glucose , J Biol Chem 153:375-380 ( (May) ) 1944;.
Dole, V.P.:  A Relation between Non-Esterified Fatty Acids in Plasma and the Metabolism of Glucose , J Clin Invest 35:150-154 ( (Feb) ) 1956;.
Soeldner, J.S., and Slone, D.:  Critical Variable in the Radio-Immunoassay of Serum Insulin Using the Double Antibody Technique , Diabetes 14:771-779 ( (Dec) ) 1965;.
Boden, G., and Soeldner, J.S.: A Sensitive Double Antibody Radio-Immunoassay for Human Growth Hormone (H.G.H.): Following Rapid Tolbutamide Infusion, to be published.
Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3, Springfield, Ill: Charles C Thomas, Publisher, 1965;.
Dunn, H.G., et al:  Benign Congenital Hypotonia With Chromosomal Anomaly , Pediatrics 28: 578-591 ( (Oct) ) 1961;.
Laurance, B.M.:  Hypotonia, Mental Retardation, Obesity and Cryptorchidism Associated With Dwarfism and Mental Retardation , Arch Dis Child 42:126-139 ( (April) ) 1967;.
Prader, A., and Willi, H.: " Das Syndrome von Imbezillitat, Adipositas, Muskelhypotonie, Hypogenitalismus, Hypogonadismus und Diabetes Mellitus mit 'Myatonie' Anamnese ," Verh 2int Kongr Psych Entw-Stor Kindes-Alt Wien 1961 , (part 1) , 1963;, pp 353-357.
Larbre, F., et al:  Une Observation de Syndrome de Willi, Prader et Labhart , Pediatric 20: 349-351 ( (April) -May) 1965;.
Roget, J., et al:  Syndrome Associant Adiposite Chryptochidie et Retard Mental Accompagne D'une Aberration Chromosomique Pediatric 20:295-300 ( (April) -May) 1965;.
Evans, P.R.:  Hypogenital Dystrophy With Diabetic Tendency , Guy's Hospital Report 113:207-222, 1964;.
Forssman, H., and Hagberg, B.,  Prader-Willi Syndrome in a Boy of Ten With Pre-Diabetes , Acta Pediat 53:70-77, ( (Jan) ) 1964;.
Royer, P.:  Le Diabete Sucre Dans Le Syndrome de Willi-Prader , Journees Ann Diabet Hotel Dieu 4:91-99, 1963;.
Walton, J.M.:  Amyotonia Congenita: Follow-up Study , Lancet 2:1023 ( (June 30) ) 1956;.
Johnsen, S.; Crawford, J.D.; and Haessler, H.A.: Fasting Hyperlipogenesis: An Inborn Error of Energy Metabolism in Prader-Willi Syndrome, American Pediatric Society Abstract, 1967, p 2.
Feingold, M.: Yearbook of Pediatrics , Chicago: Yearbook Medical Publishers, 1966-1967;, p 329.

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