Newly recognized autosomal recessive faciothoracoskeletal syndrome

Abstract

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome.