Prader-Willi症候群の2例

Abstract

Two boys with Prader-Willi syndrome observed by these authors and 69 cases reported by other investigators in Japan are reviewed. The first case was a 12-year-old boy. He was the product of the second pregnancy of 32-year-old mother. Weight at birth was 2, 800 grams. The infant was motionless, hypotonic and sucked poorly. Psychomotor development was delayed. The child started to walk at 3 years. He was obese (51.5 kg, 134 cm) and chromosomal analysis revealed a normal karyotype with an XY sex chromosmal ccmplement. He was operated on the bilateral cryptorchism. The second case was a 10-year-old boy. He was the product of the third pregnancy of 39-yearold mother. Weight at birth was 2100 grams and the infant was hypotonic. Psychomotor development was delayed. He started to walk at 2 years. The child was obese (133.3 cm, 54 kg) and chromosomal analysis revealed long Y. He was operated on the bilateral undescended testes. In the dermatoglyphics of our cases whorls were observed in each 8 fingers. This is very high incidence and may be a sign of Prader-Willi syndrome.