A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder

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Elcioglu N., Hall C.

JOURNAL OF MEDICAL GENETICS, cilt.35, sa.6, ss.505-507, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 6
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1136/jmg.35.6.505
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.505-507
  • Anahtar Kelimeler: osteochondrodysplasia, short limbed dwarfism, lethal, Astley-Kendall dysplasia
  • Marmara Üniversitesi Adresli: Hayır

Özet

An unusual osteochondrodysplasia presenting with lethal neonatal short Limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.