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.


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