New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin

M. Shohat, R. Lachman, R. Carmi, J. B. Ziv, D. Rimoin

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


We report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebrae appear squared with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification delay. These patients present a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract.

Original languageEnglish
Pages (from-to)358-362
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1 Jan 1993
Externally publishedYes


  • autosomal recessive
  • lumbar lordosis
  • spondylometaphyseal

ASJC Scopus subject areas

  • Genetics(clinical)


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