Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

Am J Med Genet A. 2005 Jul 30;136(3):233-41. doi: 10.1002/ajmg.a.30805.

Abstract

We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), mega-epiphyses, platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss. We compare this case to the other reported forms of skeletal dysplasias, particularly the mesomelic, acromesomelic, and mega-epiphyseal disorders.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Bone Diseases, Developmental / pathology*
  • Calcinosis / pathology*
  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Male
  • Middle Aged
  • Myopia / pathology
  • Osteochondrodysplasias / pathology*
  • Retinal Detachment / pathology
  • Upper Extremity Deformities, Congenital / pathology*