New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

@article{Nivelon1992NewAR,
  title={New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.},
  author={A Nivelon and Jean Louis Nivelon and J. P. Mabille and Pierre Maroteaux and John. Feldman and Serges Douvier and S{\'e}gol{\`e}ne Aym{\'e}},
  journal={Clinical dysmorphology},
  year={1992},
  volume={1 4},
  pages={221-7}
}
Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The… CONTINUE READING