Cerebro-oculo-facio-skeletal syndrome (cofs syndrome)   226

General: Inherited as autosomal recessive disorder; death within the first 3 years of life; feeding difficulties secondary to incoordination of the swallowing mechanism.

Ocular: Microphthalmia; blepharophimosis; cataracts.

Clinical: Microcephaly; hypotonia; prominent nasal root; large ear pinnae; flexion contractures at elbows and knees; camptodactylia; osteoporosis; kyphosis; scoliosis; congenital muscular dystrophy.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Gershoni-Baruch, et al. Cerebrooculo-facio-skeletal syndrome: further delineation. Am J Med Genet 1991; 41:74-77.

Lowry RB, et al. Cataracts, microcephaly, kyphosis and limited joint movement in two siblings. A new syndrome. J Pediatr 1971; 79:282.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Pena SDJ, Shokeir MKH. Autosomal recessive cerebrooculo-facio-skeletal (COFS) syndrome. Clin Genet 1974; 5:285.