Voltar
Revisão Acesso aberto Produção Nacional
BIBTEX RIS

Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

2010; Wiley; Volume: 88; Issue: 4 Linguagem: Inglês

10.1002/bdra.20653

ISSN

2472-1727

Autores

Lília Maria de Azevedo Moreira, Marcos Almeida Matos, Patricia P. Schiper, Acácia Fernandes Lacerda de Carvalho, Ivalda C. Gomes, José C. Rolemberg, Renata Lúcia Leite Ferreira de Lima, Maria Betânia Pereira Toralles,

Tópico(s)

Urological Disorders and Treatments

Resumo

Abstract 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. RESULTS Chromosome analysis showed a karyotype of 47,XY,+21 in all 30 cells analyzed. Radiographic examination showed typical findings of achondroplasia, such as disproportionately large skull, shortening of limb segments, and lumbar lordosis. FGFR3 screening showed a heterozygous G1138A mutation. CONCLUSIONS The interaction of these two distinct genetic disorders in the same patient produces a phenotype typical of each syndrome with some overlapping signs. This case represents de novo origin of two disorders that both may be parental‐age related. Birth Defects Research (Part A) 2010. © 2010 Wiley‐Liss, Inc.

Referência(s)