Aviña-Fierro JA, Pérez-Ornelas NB

Language: Spanish
References: 14
Page: 349-351
PDF size: 183.58 Kb.

ABSTRACT

Kabuki syndrome is an extremely rare disease with the following clinical findings: facial dysmorphy, with long upslanting palpebral fissures, prominent ears, skeletal abnormalities, mental retardation and postnatal growth deficiency. This is a clinical case of sporadic transmission without genetic inheritance. It is the first case reported and published in Mexico.

REFERENCES

1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981;99:565-9.

2. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981;99:570-3.

3. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005;132:265-72.

4. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988;31:565-90.

5. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet 2004;67:209-19

6. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: A review study of three hundred patients. Clin Dysmorph 2002;11:95-102.

7. Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet 2005;135:278-81.

8. Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediatr Jpn 1994;36:727-9.

9. Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Autoimmune disorders in Kabuki syndrome. Am J Med Genet 2005;132:260-2.

10. Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. Dominant inheritance of Kabuki make-up syndrome. Am J Med Genet 1997;73:19-23.

11. De Souza JC, Ribeiro TC, Ribeiro RC. Kabuki make-up syndrome. J Pediatr (Rio J) 1996;72:341-4.

12. Milunsky JM, Cheney SM. Kabuki syndrome in a Haitian patient. Am J Med Genet 2001;100:172-4.

13. Guzmán AAM, Tumbaco R, Jaramillo L. Kabuki syndrome. Rev Ecuat Neurol 2004;13:31-2.

14. Pascual CI, Pascual PSI, Velásquez FR, Palencia R. Kabuki make-up syndrome. A report of 18 Spanish cases. Rev Neurol 2005;40:473-8.