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

✍ Scribed by Lilia Maria de Azevedo Moreira; Marcos A. Matos; Patricia P. Schiper; Acácia F.L. Carvalho; Ivalda C. Gomes; José C. Rolemberg; Renata L.L. Ferreira de Lima; Maria B.P. Toralles

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 160 KB
• Volume: 88
• Category: Article
• ISSN: 1542-0752
• DOI: 10.1002/bdra.20653

✦ Synopsis

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.