0
November 1990, Vol 144, No. 11 >
Article | November 1990

Physical Features of Prader-Willi Syndrome in Neonates FREE

David J. Aughton, MD; Suzanne B. Cassidy, MD
[+] Author Affiliations

Accepted for publication March 29, 1990.

Presented in part at the Ninth Annual David W. Smith Workshop on Malformations and Morphogenesis, Oakland, Calif, August 5, 1988.

Reprint requests to Department of Pediatrics, Division of Genetics, William Beaumont Hospital, 3601 W Thirteen Mile Rd, Royal Oak, MI 48073 (Dr Aughton).


Am J Dis Child. 1990;144(11):1251-1254. doi:10.1001/archpedi.1990.02150350083032.
Text Size: A A A
Published online
Article
References
Comments

• 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.
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.
7 +
Cassidy SB.  Prader-Willi syndrome . Curr Probl Pediatr . 1984;;14:1-55.
8 +
Greenberg F, Elder FFB, Ledbetter DH.  Neonatal diagnosis of Prader-Willi syndrome and its implications . Am J Med Genet . 1987;;28:845-856.
9 +
Babson SG, Benda GI.  Growth graphs for the clinical assessment of infants of varying gestational age . J Pediatr . 1976;;89:814-820.
10 +
Davies DP, Ansari BM, Cooke TJH.  Anterior fontanelle size in the neonate . Arch Dis Child . 1975;;50:81-83.
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.
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.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

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.
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.
7 +
Cassidy SB.  Prader-Willi syndrome . Curr Probl Pediatr . 1984;;14:1-55.
8 +
Greenberg F, Elder FFB, Ledbetter DH.  Neonatal diagnosis of Prader-Willi syndrome and its implications . Am J Med Genet . 1987;;28:845-856.
9 +
Babson SG, Benda GI.  Growth graphs for the clinical assessment of infants of varying gestational age . J Pediatr . 1976;;89:814-820.
10 +
Davies DP, Ansari BM, Cooke TJH.  Anterior fontanelle size in the neonate . Arch Dis Child . 1975;;50:81-83.
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.
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.

Correspondence

Submit a Letter
CME
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Clear Answers | Save For Later
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Compression-Only CPR: Pushing the Science Forward
Cone
AAM 2010;304:1493-1495.
All you need to read in the other general journals
BMJ 2010;341:c5893-c1494.
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.

© 2013 American Medical Association. All Rights Reserved.
Powered bySilverchair Information Systems