Article
Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association.
Birth defects research. Part A, Clinical and molecular teratology - 1 Apr 2010
de Azevedo Moreira Lilia Maria, Matos Marcos A, Schiper Patricia P, Carvalho Acácia F L, Gomes Ivalda C, Rolemberg José C, Ferreira de Lima Renata L L, Toralles Maria B P
Abstract excerpt
BACKGROUND: This report describes the sixth case of an unusual association: Down syndrome with achondroplasia. It also analyzes the effects of both of these disorders on patient phenotype. METHODS: A male infant was evaluated for Down syndrome. His appearance also suggested a diagnosis of achondroplasia. The child was evaluated by physical examination, radiography, cytogenetic study, and mutation analysis....
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