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, forms similar to Cockayne syndrome, type 2, and milder forms compatible with survival through childhood. These milder conditions appear to be non-progressive and include Martsolf syndrome, CAHMR syndrome, and MICRO syndrome. Thus far, none of these entities have been associated with specific biochemical, chromosomal, or molecular defects, despite intensive investigations in many of the reported cases, and recurrence in a number of consanguineous families. We report 2 pairs of siblings who presented with classic features of COFS/MICRO syndrome, and compare them with previously reported cases and one unreported deceased case of COFS syndrome, in an effort to delineate the unique features of this phenotypic community of syndromes. This group of syndromes may represent one condition with variable interfamilial severity. Now that cellular analyses are available to test for Cockayne syndrome, we recommend that this be done in such patients. Once the genetic bases for each of these syndromes has been established, more definitive delineation may be possible.
|Original language||English (US)|
|Journal||Journal of Investigative Medicine|
|State||Published - 1996|