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Revista Mexicana de Pediatría

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2006, Number 2

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Rev Mex Pediatr 2006; 73 (2)

The Da-Silva syndrome. A case report

Aviña-Fierro JA, Navarrete CM
Full text How to cite this article

Language: Spanish
References: 7
Page: 78-81
PDF size: 98.43 Kb.


Key words:

Da-Silva syndrome, corpus callosum dysgenesia, mental retardation.

ABSTRACT

Clinical report of a dwarfish girl with delayed growth and development and neurological disorders of pyramidalism and seizures with dysmorphed craniofacial and mental retardation. The genetic study concluded that the disorder was a Da-Silva syndrome: according to the clinical findings and the diagnosis criteria, and the dysgenesia of corpus callosum.


REFERENCES

  1. Da Silva EO. Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. Am J Med Genet 1988; 29: 837-43.

  2. Naritomi K, Tohma T, Goya Y, Shiroma N, Hirayama K. Delineation of the Da-Silva syndrome. Am J Med Genet 1994; 49: 313-6.

  3. Cao A, Cianchetti C, Signorini E, Loi M, Sanna G, De Virgiliis S. Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. Clin Genet 1977; 12: 290-6.

  4. Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol 2006; 34: 186-93.

  5. Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y. Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter. Neuropathology 2005; 25: 346-52.

  6. Fernandez CI, Telleria JJ, Alonso M, Palencia R, Duran M, Lopez B et al. Autosomal recessive diseases with mental retardation. Rev Neurol 2006; 42 (Suppl 1): S39-43.

  7. Vallance H, Ford J. Carrier testing for autosomal-recessive disorders. Crit Rev Clin Lab Sci 2003; 40: 473-97.




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Rev Mex Pediatr. 2006;73