The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes

@article{Kopy1980TheSS,
  title={The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes},
  author={Zbyslaw Kopyś{\'c} and Maria Stańska and J{\'o}zef Ryżko and Bronislawa Kulczyk},
  journal={Human Genetics},
  year={1980},
  volume={56},
  pages={195-204}
}
The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, (1-year-old) did not show any deviations. The diagnosis of the Saethre… CONTINUE READING