Physical features of Prader-Willi syndrome in neonates
D. J. Aughton and S. B. Cassidy
Department of Pediatrics, William Beaumont Hospital, Royal Oak, Mich 48073.
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.
