creators_name: Dal, SI creators_name: Parmar, P creators_id: dal.sameer@gmail.com editors_name: Kakkilaya, Srinivas editors_id: Kakkilaya BS type: journale datestamp: 2010-09-13 03:51:06 lastmod: 2011-03-11 08:57:44 metadata_visibility: show title: Yunis Varon Syndrome ispublished: pub subjects: OJHAS full_text_status: public keywords: Yunis-Varon syndrome, distal aphalangea abstract: We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes & cleidocranial dysplasia. Additional features in this case were patent ductus arteriosus, CT brain findings suggestive of ischemic changes, CSF examination suggestive of pyogenic meningitis & cystic changes in right adrenal gland. date: 2010-07-30 date_type: published publication: Online Journal of Health and Allied Sciences volume: 9 number: 2 publisher: Dr. B.S. Kakkilaya refereed: TRUE referencetext: 1. Yunis E, Varon H. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangea: A new genetic syndrome. Am J Dis Child 1980;134:649-653, 2. Huges HE, Partington MW. Brief clinical report: the syndrome of Yunis and Varon - report of a further case. Am J Med Genet 1983;14:539-544 3. Pfeiffer RA, Diekmann L, Stock HJ. Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome: A new entity, a new observation. Ann Genet 1988;31:241-243. 4. Jones KL. Smith’s Recognizable Patterns of Human Malformation. 5th edition. Philadelphia. WB Saunders Company.1997. pp 410-411. 5. Ades LC, Morris LL, Richardson M, Pearson C, Haan EA. Congenital heart malformation in Yunis-Varon syndrome. J Med Genet 1993;30:788-792. 6. Partington ME. Cardiomyopathy added to the Yunis Varon syndrome. Proc Greenwood Genet 1988;7:224-225 7. Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, et al. Yunis-Varon syndrome: Evidence for a lysosomal storage disease. Am J Med Genet 2000;95:157-160. 8. Dworzak F, Mora M, Borroni C, Cornelio F, Blasevich F, Cappellini A, et al. Generalized lysosomal storage in Yunis-Varon syndrome. Neuromuscul Disord 1995;5:423-428. 9. Bhatia S, Holla RG. Yunis Varon syndrome. Indian Pediatr 2005;42:373-375. 10. Kulkarni ML, Vani HN, Nagendra K et al. Yunis Varon Syndrome. Indian J Pediatr 2006;73(4):353-355. citation: Dal, SI and Parmar, P (2010) Yunis Varon Syndrome. [Journal (On-line/Unpaginated)] document_url: http://cogprints.org/7015/1/2010-2-16.pdf