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

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

Journal: Birth defects research. Part A, Clinical and molecular teratology 2010;88(4):228-31

PMID: 20222028

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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.

Address: Laboratory of Human Genetics and Mutagenesis, Biology Institute, Federal University of Bahia, Barão de Geremoabo, Salvador, Bahia, Brazil. [email protected]

DOI: 10.1002/bdra.20653

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MeSH Terms: Achondroplasia, Amino Acid Substitution, Down Syndrome, Genotype, Humans, Infant, Newborn, Karyotyping, Male, Maternal Age, Mutation, Missense, Paternal Age, Phenotype, Point Mutation, Receptor, Fibroblast Growth Factor, Type 3