Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.

@article{Silengo1993UncombableHR,
  title={Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.},
  author={Margherita Cirillo Silengo and Margherita Lerone and Giovanni Romeo and Eleonora Calcagno and Giuseppe Martucciello and Vincenzo Jasonni},
  journal={American journal of medical genetics},
  year={1993},
  volume={47 6},
  pages={931-3}
}
A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant… CONTINUE READING