2012, Number 1
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Ciencia UG 2012; 2 (1)
Reporte de un caso: Síndrome de Cornelia de Lange
Navarro SR, Oñate RMB, Orozco ML
Language: Spanish
References: 13
Page: 5-7
PDF size: 520.89 Kb.
ABSTRACT
The Cornelia de Lange Syndrome is a congenital development disorder. It occurs in offspring of consanguineous parents by autosomal recessive inheritance. Its incidence is 1 per 10,000 inhabitants, and most appear to be sporadic. Clinically characterized by dysmorphism, developmental delay and growth retardation, upper limb malformations, heart defects and gastrointestinal abnormalities. We report a case of a newborn with Cornelia de Lange syndrome and review of the literature.
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