Aase syndrome: clinical and behavioral Symptoms


Aase syndrome: clinical and behavioral Symptoms


Glauciele Souza de Santana¹*; Daniella de Andrade Monteiro1; Hellen Kevillyn Brito de Souza1; Ieli Lima da Silva1; José Carlos Izidio Filho1; Héberte de Santana Arruda2;


American journal of genetics

Introduction: Aase-Smith syndrome is a rare genetic disease characterized by anemia and skeletal deformities. The age at the start of symptoms is since birth and it´s commom in both sexes. * Show the syndrome problem in individuals, their clinical and behavioral characteristics. Contribute to a better understanding of the Aase Syndrome with syndromes that lead to similar symptoms.

Methodology: This literature review on the syndrome was performed with research of information in published scientific articles.

Result: Analyzed some common and rare symptoms, reports of observed cases of Aase-Smith syndrome, jointly with their respective symptoms and other syndromes, in addition whit the authors’ arguments in their articles that interpose, for example, about the genetic inheritance of the syndrome is dominant or recessive.

Conclusion: The relationship between Aase syndrome and congenital hypoplasia anemia is not fully understood by the scientists and the syndrome represents a challenge in the approach to treatment, since this syndrome has no cure and does not present a standard treatment approach.


Keywords: Aase syndrome, Aase-Smith, Symptoms.

Free Full-text PDF


How to cite this article:

Glauciele Souza de Santana; Daniella de Andrade Monteiro; Hellen Kevillyn Brito de Souza; Ieli Lima da Silva; José Carlos Izidio Filho; Héberte de Santana Arruda.Aase syndrome: clinical and behavioral Symptoms.American Journal of Genetics, 2019, 2:8


References:
1. Hurst, J. A., Baraitser, M., & Wonke, B. (1991). Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. American Journal of Medical Genetics, 40(4), 482–484. doi:10.1002/ajmg.1320400422
2. Hing, A. V., & Dowton, S. B. (1993). Aase syndrome: Novel radiographic features. American Journal of Medical Genetics, 45(4), 413–415. doi:10.1002/ajmg.1320450402
3. Higginbottom MC, Jones KL, Kung FH, Koch TK, Boyer JL. The Aase syndrome in a female infant. J Med Genet. 1978;15(6):484-6.
4. Dror Y, Durie P, Marcon P, Freedman MH.Duplication of distal thumb phalanx in Shwachman-Diamond syndrome.Am J Med Genet. 1998 Jun 16;78 (1):67-9.
5. Muis N, Beemer FA, van Dijken P, Klep-de Pater JM.The Aase syndrome. Case report and review of the literature.Eur J Pediatr. 1986 Apr;145 (1-2):153-7.
6. Sackey K, Sakati N, Aur RJ, Shebib S, Sabbah RS, Rifai S.Multiple dysmorphic features and pancytopenia: a new syndrome?Clin Genet. 1985 Jun;27(6):606-10.