Autosomal recessive Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome

Abstract

Ten patients displaying a uniform Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome are presented. The syndrome is characterized by microcephaly, hypotonia, microphthalmia, cataracts, blepharophimosis, large ear pinnae, prominent root of the nose, micrognathia, widely set nipples, camptodactyly, flexure contractures at the elbows and knees, generalized osteoporosis, dysplastic acetabula, coxa valga and vertical talus manifesting as rocker bottom feet. Marked failure to thrive and repeated lower respiratory infections led to death within the first three years of life. Evidence strongly suggestive of autosomal recessive inheritance is presented.