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