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Brittle Bone diseases (Osteogenesis Imperfecta)

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Type I and IV are usually autosomal dominant but new mutations often occur. There are a variety of genetic causes for type II and type III and skilled genetic counselling is necessary. There are kinds of OI which do not fit in the above categories.

Prenatal diagnosis
Severe cases may be detected by ultrasound scanning. A DNA test may be available at eight weeks for some affected families where the family has already been studied. Genetic counselling is available for affected families.

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Medical text written November 2002 by Dr S F Ahmed. Last updated March 2007 by Dr S F Ahmed, Consultant in Paediatric Endocrinology and Bone Metabolism, Royal Hospital For Sick Children, Yorkhill, Glasgow, UK.

 

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