AbstractYunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married normal parents with typical clinical and radiologic features of Yunis-Varon syndrome along with complete cleft lip and palate: an infrequent association. The family had two previous babies with similar features who died in infancy. This is a first reported case of Yunis-Varon syndrome in Pakistan.Keywords: Cleidocranial dysplasia; aplastic thumb and toes; Yunis-Varon syndrome
Sumi M, Kusumoto T, Kondoh T, Moriuchi H, Miyamoto M, Masuzaki H, et al. A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. Am J Med Genet Part A 2004;125A(1):92–3.
Yunis E, Varon H. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome. Am J Dis Child 1980;134(7):649–53.
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. Yunis-Varon syndrome: further delineation of the phenotype. Am J Med Genet Part A 2008;146A(4):532–7.
Hadipour Z, Shafeghati Y, Hadipour F. Yunis-Varon syndrome: the first report of two Iranian cases. Acta Med Iran 2014;52(1):85–7.
Bhatia S, Holla RG. Yunis-Varon syndrome. Indian Pediatr 2005;42(4):373–5.
Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, et al. Yunis Varon syndrome. Indian J Pediatr 2006;73(4):353–5.
Ades LC, Morris LL, Richardson M, Pearson C, Haan EA. Congenital heart malformation in Yunis-Varon syndrome. J Med Genet 1993;30(9):788–92.
Rabe H, Brune T, Rossi R, Steinhorst V, Jorch G, Horst J, et al. Yunis-Varon syndrome: the first case of German origin. Clin Dysmorphol 1996;5(3):217–22.
Corona-Rivera JR, Romo-Huerta CO, Lopez-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC. New ocular findings in two sisters with Yunis-Varon syndrome and literature review. Eur J Med Genet 2011;54(1):76–81.
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 2013;92(5):781–91.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, et al. Yunis-Varon syndrome caused by biallelic VAC14 mutations. Eur J Hum Genet 2017;25(9):1049–54.