Osteogenesis Imperfecta
| Autor: | Deborah Krakow |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Rib cage 030219 obstetrics & reproductive medicine Small chest Genetic heterogeneity business.industry 030105 genetics & heredity Bone fragility medicine.disease Skeleton (computer programming) 03 medical and health sciences Pulmonary hypoplasia 0302 clinical medicine Short limbs Osteogenesis imperfecta medicine business |
| DOI: | 10.1016/b978-0-323-44548-1.00052-8 |
| Popis: | Osteogenesis imperfecta (OI) is a disorder of bone characterized by hypomineralization of the skeleton and by life-long bone fragility and fracture predisposition. OI is marked by considerable clinical and genetic heterogeneity. Historically, OI has been grouped into four major types (I-IV), with OI type II defined as perinatal lethal. More recently, OI has been divided into mild, severe, and perinatal lethal types that are associated with genetic heterogeneity. Ultrasound findings in perinatal lethal OI include skeletal hypomineralization, short limbs with angulation or bowing of the long bones, and bending of the ribs. The OI phenotypic spectrum is large, and lethality results from a small chest and underlying pulmonary hypoplasia. |
| Databáze: | OpenAIRE |
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