medigraphic.com
SPANISH

Revista Mexicana de Pediatría

ISSN 0035-0052 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
    • Send manuscript
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2011, Number 5

<< Back Next >>

Rev Mex Pediatr 2011; 78 (5)

Hypothalamic hamartoma in a new born: Pallister Hall syndrome

Serna GMA, Ríos FB, Ibarra PJ, Olivas PE, Aguinaga RM, Mendoza CE
Full text How to cite this article

Language: Spanish
References: 10
Page: 202-205
PDF size: 299.53 Kb.


Key words:

Hamartoblastoma, hypothalamus, postaxial polysindactyl, dominant autonomic heritage.

ABSTRACT

We present a case of a new born with anormalies diagnosed antenatal, showing at birth structural defects in the middle line, postaxial polidactilia, ambiguous genitalia, and, in his magnetic resonance study with a mass defect on both thalamus. According with de findings in the Pallister Hall syndrome, this patient had characteristics suggesting a variant of such syndrome.


REFERENCES

  1. Kuo JS, Casey SO, Thompson L, Truwit C. Pallister-Hall syndrome: clinical and MR features. Am J Neuroradiol 1999; 20: 1839-41.

  2. Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997; 15: 266-8.

  3. Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG. Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. Clin Genet 2005; 67(1): 87-92.

  4. Boudreau EA, Liow K, Frattali CM, Turner JT, Feuillan P, Sato S. Hypothalamic hamartomas and seizures: distinct natural hystory of isolated and Pallistter-Hall syndrome cases. Epilepsia 2005; 46(1): 42-7.

  5. Finnigan DP, Clarren SK, Haas JE. Extending the Pallister-Hall syndrome to include other central nervous system malformations. Am J Med Genet 1999; 40(4): 395-400.

  6. Biesecker LG, Graham JM Jr. Pallister-Hall syndrome. J Med Genet 1996; 33: 585-89.

  7. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC et al. Congenital hypothalamic, hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly, a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 1980; 7(1): 47-74.

  8. Clarren SK, Alvord EC Jr, Hall JG. Congenital hypothalamic, hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly, a new syndrome? Part II: Neurolopathological considerations. Am J Med Genet 1980; 7(1): 75-83.

  9. Squires LA, Constantini S, Miller DC. Hypothalamic hamartoma and the Pallister-Hall syndrome. Pediatr Neurosurg 1995; 22(6): 303-8.

  10. Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. Case report and delination of congenital hypothalamic hamaryoblastoma syndrome (Pallister-Hall syndrome). Am J Med Genet 1989; 33(4): 489-99.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Mex Pediatr. 2011;78