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Physical Features of Prader-Willi Syndrome in Neonates

Physical Features of Prader-Willi Syndrome in Neonates Abstract • A retrospective study of 16 patients was undertaken to identify physical features that may typify neonates with Prader-Willi syndrome. Several features known to be typical of Prader-Willi syndrome in early infancy were confirmed, including hypotonia and genital hypoplasia. A number of features that have not previously been emphasized as characterizing Prader-Willi syndrome were also identified, most notably abnormal cry and, in males, signs of genital hypoplasia but with an apparently normal phallus. Other features included disproportionately large head circumference, disproportionately large anterior fontanelle, mild micrognathia, mild anomalies of the gingivae or alveolar ridges, and changes in the appearance of the skin. Appreciation of these features may assist the pediatrician in recognizing the child with Prader-Willi syndrome during the neonatal period, before the appearance of better-known findings of later onset, such as obesity and acromicria. (AJDC. 1990;144:1251-1254) References 1. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenealter . Schweiz Med Wochenschr . 1956;86:1260-1261. 2. Holm VA. The diagnosis of Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome . Baltimore, Md: University Park Press; 1981:28-44. 3. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome . N Engl J Med. 1981;304:325-329.Crossref 4. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases . Am J Hum Genet . 1982;34:278-285. 5. Ledbetter DH, Cassidy SB. The etiology of Prader-Willi syndrome: clinical implications of the chromosome 15 abnormalities . In: Caldwell ML, Taylor RL, eds. Prader-Willi Syndrome: Selected Research and Management Issues . New York, NY: Springer-Verlag NY Inc; 1988:13-28. 6. Stephenson JBP. Prader-Willi syndrome: neonatal presentation and later development . Dev Med Child Neurol . 1980;22:792-799.Crossref 7. Cassidy SB. Prader-Willi syndrome . Curr Probl Pediatr . 1984;14:1-55.Crossref 8. Greenberg F, Elder FFB, Ledbetter DH. Neonatal diagnosis of Prader-Willi syndrome and its implications . Am J Med Genet . 1987;28:845-856.Crossref 9. Babson SG, Benda GI. Growth graphs for the clinical assessment of infants of varying gestational age . J Pediatr . 1976;89:814-820.Crossref 10. Davies DP, Ansari BM, Cooke TJH. Anterior fontanelle size in the neonate . Arch Dis Child . 1975;50:81-83.Crossref 11. Chitayat D, Davis EB, McGillivray BC, Hayden MR, Hall JG. Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet . Clin Genet . 1989;35:161-166.Crossref 12. Nugent JK, Holm VA. Physical growth in Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome. Baltimore , Md: University Park Press; 1981:269-280. 13. Zellweger H. Diagnosis and therapy in the first phase of Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome . Baltimore, Md: University Park Press: 1981:55-68. 14. Jones KL. Smith's Recognizable Patterns of Human Malformations . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988:704. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Physical Features of Prader-Willi Syndrome in Neonates

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References (14)

Publisher
American Medical Association
Copyright
Copyright © 1990 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1990.02150350083032
Publisher site
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Abstract

Abstract • A retrospective study of 16 patients was undertaken to identify physical features that may typify neonates with Prader-Willi syndrome. Several features known to be typical of Prader-Willi syndrome in early infancy were confirmed, including hypotonia and genital hypoplasia. A number of features that have not previously been emphasized as characterizing Prader-Willi syndrome were also identified, most notably abnormal cry and, in males, signs of genital hypoplasia but with an apparently normal phallus. Other features included disproportionately large head circumference, disproportionately large anterior fontanelle, mild micrognathia, mild anomalies of the gingivae or alveolar ridges, and changes in the appearance of the skin. Appreciation of these features may assist the pediatrician in recognizing the child with Prader-Willi syndrome during the neonatal period, before the appearance of better-known findings of later onset, such as obesity and acromicria. (AJDC. 1990;144:1251-1254) References 1. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenealter . Schweiz Med Wochenschr . 1956;86:1260-1261. 2. Holm VA. The diagnosis of Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome . Baltimore, Md: University Park Press; 1981:28-44. 3. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome . N Engl J Med. 1981;304:325-329.Crossref 4. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases . Am J Hum Genet . 1982;34:278-285. 5. Ledbetter DH, Cassidy SB. The etiology of Prader-Willi syndrome: clinical implications of the chromosome 15 abnormalities . In: Caldwell ML, Taylor RL, eds. Prader-Willi Syndrome: Selected Research and Management Issues . New York, NY: Springer-Verlag NY Inc; 1988:13-28. 6. Stephenson JBP. Prader-Willi syndrome: neonatal presentation and later development . Dev Med Child Neurol . 1980;22:792-799.Crossref 7. Cassidy SB. Prader-Willi syndrome . Curr Probl Pediatr . 1984;14:1-55.Crossref 8. Greenberg F, Elder FFB, Ledbetter DH. Neonatal diagnosis of Prader-Willi syndrome and its implications . Am J Med Genet . 1987;28:845-856.Crossref 9. Babson SG, Benda GI. Growth graphs for the clinical assessment of infants of varying gestational age . J Pediatr . 1976;89:814-820.Crossref 10. Davies DP, Ansari BM, Cooke TJH. Anterior fontanelle size in the neonate . Arch Dis Child . 1975;50:81-83.Crossref 11. Chitayat D, Davis EB, McGillivray BC, Hayden MR, Hall JG. Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet . Clin Genet . 1989;35:161-166.Crossref 12. Nugent JK, Holm VA. Physical growth in Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome. Baltimore , Md: University Park Press; 1981:269-280. 13. Zellweger H. Diagnosis and therapy in the first phase of Prader-Willi syndrome . In: Holm VA, Sulzbacher S, Pipes PL, eds. The Prader-Willi Syndrome . Baltimore, Md: University Park Press: 1981:55-68. 14. Jones KL. Smith's Recognizable Patterns of Human Malformations . 4th ed. Philadelphia, Pa: WB Saunders Co; 1988:704.

Journal

American Journal of Diseases of Children – American Medical Association

Published: Nov 1, 1990

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