Dermatosparaxis in children. A case report and review of the newly recognized phenotype.

@article{Petty1993DermatosparaxisIC,
  title={Dermatosparaxis in children. A case report and review of the newly recognized phenotype.},
  author={Elizabeth M. Petty and Margretta R. Seashore and Irwin M. Braverman and S Z Spiesel and Lynne T. Smith and Leonard M. Milstone},
  journal={Archives of dermatology},
  year={1993},
  volume={129 10},
  pages={1310-5}
}
BACKGROUND Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicroscopic findings have been recognized to date. OBSERVATIONS We describe the clinical and electronmicroscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles… CONTINUE READING