Molecular studies in osteogenesis imperfecta (OI). I. Clinical analysis of patients with osteogenesis imperfecta

• Authors: J.J. Pietrzyk , A. Kruczek , P. Sucharski , E. Piatkowska

Abstracts

EN

The goal of this study is to develop optimal diagnostic methods for osteogenesis imperfecta (OI), which will allow to distinguish familial from spontaneous cases and can be used in prenatal diagnostics as well. The paper summarizes the clinical part of the study, in which 69 families were analyzed. The families with OI were registered, their pedigrees were studied, a clinical classification of the disease was carried out and the dermatoglyphics of the affected patients were analyzed. Based on the above results a diagnostic algorithm was elaborated.

Keywords

EN

CLINICAL CLASSIFICATION; COLLAGEN; OSTEOGENESIS

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 1998
• Volume: 39
• Issue: 4
• Pages: 331-348

Contributors

author

J.J. Pietrzyk

author

A. Kruczek

author

P. Sucharski

author

E. Piatkowska

• Publication order reference: A. Kruczek, Department of Genetics, Polish-American Children's Hospital, Collegium Medicum Jagiellonian University, ul. Wielicka 265, 30-663 Krakow, Poland