Majewski syndrome

General: Autosomal recessive; normal chromosome 131j99b s; perinatal mortality; has been suggested to be related to Mohr syndrome.

Ocular: Cataract; optic disk edema; optic atrophy; hypertelorism; absent lashes and brows; persistent pupillary membrane.

Clinical: Short rib polydactyly; cleft lip; cleft palate; narrow thorax; short tibia; hypoplastic epiglottis; lung and visceral abnormalities.

Cherstroy ED, et al. Difficulties in classification of the short rib polydactyly syndromes. Eur J Pediatr 1980; 133: 57-61.

Chess J, et al. Ocular pathology of the Majewski syndrome. Br J Ophthalmol 1982; 66:736-741.

Majewski F, et al. Polysyndaktylie, Verkuerzte Gliedmassen, und Genitalfehlbildungen. Z Kinderheilkd 1971; 111: 118-l38.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.

Silengo MC, et al. Orofacial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of 2 new cases. Clin Genet 1987; 31:331-336.