DELINEATION OF CEREBRO-OCULO-FACIAL-SKELETAL (COFS) SYNDROME. † 478

@article{Graham1996DELINEATIONOC,
  title={DELINEATION OF CEREBRO-OCULO-FACIAL-SKELETAL (COFS) SYNDROME. † 478},
  author={John M Graham and Elaine H. Zackai and Richard Alan Lewis and William B. Dobyns},
  journal={Pediatric Research},
  year={1996},
  volume={39},
  pages={82-82}
}
Though initially reported as early as 1971, the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome was initially delineated by Pena and Shokeir in 1974 as a progressive autosomal recessive brain and eye disorder leading to brain atrophy, hypoplasia of the corpus callosum, hypotonia, severe mental retardation, cataracts, microcornia, optic atrophy, and progressive joint contractures with postnatal growth deficiency. Even with the earliest reports, there appeared to a severe perinatal lethal form…