Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters

Damar C., Boyunaga Ö. L., Derinkuyu B. E., Battaloglu N., EZGÜ F. S.

SKELETAL RADIOLOGY, cilt.43, sa.11, ss.1651-1654, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 11
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s00256-014-1957-8
  • Dergi Adı: SKELETAL RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1651-1654
  • Anahtar Kelimeler: Patterson-Lowry rhizomelic dysplasia, Rhizomelic brachymelia, Proximal upper limb shortness, Humeral shortening, OMODYSPLASIA
  • Gazi Üniversitesi Adresli: Evet

Özet

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritence. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.