PEDIATRICS Vol. 71 No. 4 April 1983, pp. 669
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Russell-Silver Syndrome and XXY Karyotype

ELENA BIANCHI 1, MAURIZIO ARICO' 1, FRANCESCA SEVERI 1, and FRANCESCO PASQUALI 2

1 Department of Pediatrics, Policlinico S Matteo, 27100 Pavia, Italy
2 Institute of Genetical Biology and Medical Genetics, University of Pavia

To the Editor.—

In 1974, we reported1 a 3-year 7-month-old boy with Russell-Silver syndrome and a 47,XXY karyotype. We considered it very likely that the XXY condition was a coincidence. Recently, we have observed a second patient with Russell-Silver syndrome and a 47,XXY karyotype. The patient's age is 1 year 10 months. The diagnosis was based on the infant's small size at birth (birth weight 1,750 g) despite being born at term, triangular shape of the face, downslanting oral corners, increased curve of the fifth fingers, asymmetry of the legs and feet and marked retarded skeletal age.