Spondylometaphyseal dysplasia Sedaghatian type

Elcioglu N., Hall C.

AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.76, sa.5, ss.410-414, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 76 Sayı: 5
  • Basım Tarihi: 1998
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.410-414
  • Anahtar Kelimeler: lethal chondrodysplasia, platyspondyly metaphyseal dysplasia, Sedaghatian dysplasia, AR inheritance, LETHAL METAPHYSEAL CHONDRODYSPLASIA
  • Marmara Üniversitesi Adresli: Hayır

Özet

We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly. (C) 1998 Wiley-Liss, Inc.