Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

@article{Santana1993HypertrichosisAS,
  title={Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.},
  author={S Mart{\'i}nez Santana and F P{\'e}rez Alvarez and Jaime Luis Fr{\'i}as and M L Martinez-frias},
  journal={American journal of medical genetics},
  year={1993},
  volume={47 1},
  pages={20-3}
}
We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].