A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Karen Low; James Smith; Simon Lee; Ruth Newbury-Ecob

doi:10.1002/ajmg.a.36016

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Am J Med Genet A. 2013 Aug;161A(8):2056-9. doi: 10.1002/ajmg.a.36016. Epub 2013 Jul 3.

Authors

Karen Low¹, James Smith, Simon Lee, Ruth Newbury-Ecob

Affiliation

¹ Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. karen.low1@nhs.net

PMID: 23824731
DOI: 10.1002/ajmg.a.36016

Abstract

A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. .

Keywords: brachydactyly; broad hallux; delta phalanx; deviated toes; hypoplastic thumbs; pectus deformity.

Publication types

Case Reports

MeSH terms

Comparative Genomic Hybridization
Female
Foot Deformities, Congenital / diagnosis*
Foot Deformities, Congenital / genetics
Funnel Chest / diagnosis*
Funnel Chest / genetics
Hand Deformities, Congenital / diagnosis*
Hand Deformities, Congenital / genetics
Humans
Infant, Newborn
Mothers*
Nuclear Family*
Phenotype