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Stanesco syndrome (stanesco dysostosis syndrome; osteochondrosis-osteopetrosis) 1


Stanesco Syndrome (Stanesco Dysostosis Syndrome; Osteochondrosis-Osteopetrosis) 1

General: Autosomal dominant; present from birth; both sexes affected. 353c22d

Ocular: Exophthalmos.

Clinical: Small stature; brachycephaly; depression at frontoparietal sutures; narrow maxilla; small mandible; crowded teeth; exostoses; fractures.

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/.

Stanesco V, et al. Syndrome Hereditaire Dominant Reussissant une Dyostose Cranio-Faciale de Type Particulier, Une Insuffisance de Croissance d' Aspect Chondrodystrophlque et un Epaississement Massif de la Corticale des Os Longs. Rev Fr Endocrinol Clin 1963; 4:219-231.




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