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David J. Aughton, MD; Suzanne B. Cassidy, MD

Am J Dis Child. 1990;144(11):1251-1254.

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)

Author Affiliations
From the Department of Pediatrics, Division of Genetics, William Beaumont Hospital, Royal Oak, Mich (Dr Aughton), and the Section of Genetics/Dysmorphology, Department of Pediatrics and The Children's Research Center, The University of Arizona, Tucson (Dr Cassidy).

Footnotes
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).

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