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Pediatric Radiology

, Volume 39, Issue 1, pp 84–89 | Cite as

The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

  • Beyhan Tüysüz
  • Nurperi Gazioğlu
  • Savaş Üngür
  • Dolly Yafet Aji
  • Seval Türkmen
Case Report

Abstract

A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered.

Keywords

Spondylometaepiphyseal dysplasia Abnormal calcification Radiography Child 

References

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Beyhan Tüysüz
    • 1
  • Nurperi Gazioğlu
    • 2
  • Savaş Üngür
    • 3
  • Dolly Yafet Aji
    • 4
  • Seval Türkmen
    • 1
    • 5
  1. 1.Department of Pediatric Genetics, Cerrahpaşa Medical SchoolIstanbul UniversityIstanbulTurkey
  2. 2.Department of Neurosurgery, Cerrahpaşa Medical SchoolIstanbul UniversityIstanbulTurkey
  3. 3.Department of Pediatric Radiology, Cerrahpaşa Medical SchoolIstanbul UniversityIstanbulTurkey
  4. 4.Department of Pediatrics, Cerrahpaşa Medical SchoolIstanbul UniversityIstanbulTurkey
  5. 5.5 Universitatsklinikum Berlin, Charite Virchow-KlinikBerlinGermany

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