Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings

Clin Dysmorphol. 2001 Apr;10(2):101-3. doi: 10.1097/00019605-200104000-00005.

Abstract

In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Craniofacial Abnormalities / diagnosis
  • Foot Deformities, Congenital / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Penis / abnormalities
  • Polydactyly / diagnosis*
  • Tibia / abnormalities*