A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

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Hall C., Elcioglu N., Shaw D.

JOURNAL OF MEDICAL GENETICS, cilt.35, sa.7, ss.566-572, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 7
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1136/jmg.35.7.566
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.566-572
  • Anahtar Kelimeler: spondyloepimetaphyseal dysplasia, joint dislocations, JOINT LAXITY
  • Marmara Üniversitesi Adresli: Hayır

Özet

Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which ape particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations.