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  3. Vol. 11 No. 4 (2017): Autumn
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Vol. 11 No. 4 (2017)

September 2017

A highlighted case for emphasizing on clinical diagnosis for rare syndrome in third world

  • Fatemeh Owlia
  • Mohammad Hasan Akhavan karbassi
  • Roqayeh Hakimian
  • Mohammad-Sadegh Alemrajabi

Iranian Journal of Child Neurology, Vol. 11 No. 4 (2017), 13 September 2017 , Page 77-80
https://doi.org/10.22037/ijcn.v11i4.13704 Published: 2017-09-13

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Abstract

Premature tooth loss is a disastrous situation may impact on deciduous or permanent teeth era with different cause. It is may be attributed to some disorders like papillon- lefevr syndrome or coffin-lowry  syndrome but because of ambiguous nature, precious diagnosis is not easily possible .having very low incidence and defined by few and limited case series ,with vague characters to some extent, confusion in detecting the right diagnosis is a common possibility. Then it's expectable to have a wrong diagnosis for this case. In this article, a 5 year old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of ODDD like ataxia, dysartheria and nail deformity, ignoring other extra and intra oral finding, he was diagnosed as papillon- lefevr syndrome before, just because of early tooth loss and palmar keratosis.

Keywords:
  • Palmoplantar keratosis
  • Early tooth loss
  • Oculodentodigital dysplasia
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How to Cite

Owlia, F., Akhavan karbassi, M. H., Hakimian, R., & Alemrajabi, M.-S. (2017). A highlighted case for emphasizing on clinical diagnosis for rare syndrome in third world. Iranian Journal of Child Neurology, 11(4), 77–80. https://doi.org/10.22037/ijcn.v11i4.13704
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References

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Sreeramulu B, Shyam ND, Ajay P, Suman P. Papillon-Lefèvre syndrome: clinical presentation and management options. Clin Cosmet Investig Dent. 2015;7:75-81.

Kayalvizhi G, Subramaniyan B, Suganya G. Clinical manifestations of oculodentodigital dysplasia. J Indian Soc Pedod Prev Dent. 2014;32(4):350-2.

McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000; 355(9221):2119-24.

Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, et al. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004; 122(4):909-22.

ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J. 2006;12(7):10.

Tejada P, Eduardo YW, Gutiérrez E, Barceló A, Sánchez J. Hereditary glaucoma associated with oculodentodigital dysplasia. Arch Soc Esp Oftalmol. 2011;86(9):292-4.

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, et al. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005;48(4):377-87.

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