title: Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.
abstract: 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) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.
authors.affiliation: Faculty of Medicine, Department of Radiology, Gazi University, Beşevler, 06500, Ankara, Turkey, cagridamar@hotmail.com.
authors.forename: Çağrı
authors.initials: Ç
authors.lastname: Damar
authors.forename: Öznur
authors.initials: Ö
authors.lastname: Boyunağa
authors.forename: Betül Emine
authors.initials: BE
authors.lastname: Derinkuyu
authors.forename: Nergiz
authors.initials: N
authors.lastname: Battaloğlu
authors.forename: Fatih Süheyl
authors.initials: FS
authors.lastname: Ezgü
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D060905:Coxa Vara / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D035781:Siblings; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging