The Summitt syndrome: observations on a third case.

  title={The Summitt syndrome: observations on a third case.},
  author={Chris Sells and James W. Hanson and Judith Goslin Hall},
  journal={American journal of medical genetics},
  volume={3 1},
A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current… CONTINUE READING