Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type

L. I. Al-Gazali, D. Bakalinova, L. Sztriha

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal hysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is reviewed.

Original languageEnglish
Pages (from-to)197-206
Number of pages10
JournalClinical Dysmorphology
Volume5
Issue number3
DOIs
Publication statusPublished - 1996

Keywords

  • Spondylo-meta-epiphyseal dysplasia
  • abnormal calcification
  • autosomal recessive

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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