title: Diastrophic dysplasia in a seven-year-old girl. Case study.
abstract: Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs. The condition is progressive and leads to considerable physical disability. It continues to constitute a challenge for doctors as the outcomes of corrective orthopaedic surgery are limited. The aim of this paper is to present the course of diastrophic dysplasia in a 7-year-old girl who also experienced cervical spine luxation with signs of compression of the spinal cord and carotid arteries. We describe deformities of the motor organs present in the patient and characteristic of diastrophic dysplasia, and the findings of specialised accessory investigations. The example of evaluation for bone disorders is used to draw attention to the principles of interpretation of densitometry measurements in a patient with impaired somatic development.
authors.affiliation: Department of Paediatric Propedeu tics and Bone Metabolism Diseases, Faculty of Medicine, Medical University of Łódź. propedeutyka@usk4.umed.lodz.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Szczepaniak-Kubat
authors.forename: Maciej
authors.initials: M
authors.lastname: Tesiorowski
authors.forename: Zofia
authors.initials: Z
authors.lastname: Merc-Gołebiowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jakubowska-Pietkiewicz
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D009460:Neurologic Examination; D011859:Radiography; D013117:Spinal Cord Compression / Q000000981:diagnostic imaging