The brittle bone syndrome: an update

✍ Scribed by Roger Smith

• Publisher: Elsevier Science
• Year: 1999
• Tongue: English
• Weight: 519 KB
• Volume: 13
• Category: Article
• ISSN: 0268-0890
• DOI: 10.1016/s0268-0890(99)90006-3

✦ Synopsis

Table 1 Classification of osteogenesis imperfecta Sillenee type Clinical features Inheritance I* II III IV* Mild-to-moderate severity. Little impairment of growth: sclerae blue at all ages Very severe disease causing stillbirth or early neonatal death Severe disease with antenatal fractures in most cases: progressive deformity common: severe impairment of growth: sclerae blue in some but not all cases: dentinogenesis imperfecta common Mild-to-moderate severity: impairment of growth may occur: white sclerae in older children and adults, pale blue sclerae in early childhood Autosomal dominant: new mutations occur frequently New dominant mutation: parental mosaicism New dominant mutation: parental mosaicism: autosomal recessive form very rare Autosomal dominant: new mutations occur frequently *Subdivided into A (no overt dental abnormality) and B (dentinogenesis imperfecta present).