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Disease Information for Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)
- Clinical Manifestations
- Signs & Symptoms
- Craniotabes sign/Ping-pong feel to skull
- Dysmorphic dwarfism/short stature
- Hyperextensible joints Laxity Instability
- Skeletal problems/symptoms/signs
- Dysmorphic appearance/face
- Short stature
- Short stature Child
- Blue Sclera
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Dwarfism
- Family history/Skeletal malformations
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Diagnostic Test Results
- X-RAY
- Xray/Diffuse thin/poorly calcified bones
- Xray/Fractures not previously reported/varied ages
- Xray/Long bones abnormality/Skeletal
- Xray/Looser's/Pseudofractures/Skeletal
- Xray/Skeletal findings
- Associated Diseases & Rule outs
- Rule Outs
- Ehlers-Danlos syndrome
- Osteomalacia
- Rib fracture/fractures
- Associated Disease & Complications
- Anetoderma, perifollicular
- Aortic regurgitation
- Congenital/developmental dentition abnormalities
- Craniotabes
- Femoral neck stress fracture
- Pathologic fractures
- Recurrent bone fractures
- Disease Mechanism & Classification
- Class
- CLASS/Dermatologic/Subcutaneous (category)
- CLASS/Bone disorder (ex)
- CLASS/Skeletal (category)
- Pathophysiology
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Type-1 Collagen Defect/deficient
- Process
- PROCESS/Congenital/developmental (category)
- PROCESS/Hereditofamilial (category)
- PROCESS/Multiple dysmorphic syndrome (ex)
- PROCESS/Anomalies/Deformities/Malformations (EX)
- Synonyms
- Synonym
- Anetoderma osteogenesis imperfecta (Blegvad Haxtha, Synonym/Blegvad-Haxthausen (Anetoderma/osteogenesis imp), Synonym/Blegvad-Haxthausen syndrome
- Definition
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Blegvad-Haxthausen syndrome - Anetoderma, blue sclerae, osteogenesis imperfecta combined:Osteogenesis Imperfecta; Brittle Bone Disease; Ekman-Lobstein Disease; Lobstein Disease (Type I); OI; Vrolik Disease (Type II); Subdivisions: Osteogenesis Imperfecta Type I; Osteogenesis Imperfecta Type II; Osteogenesis Imperfecta Type III; Osteogenesis Imperfecta Type IV; Osteogenesis imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause; The specific symptoms and physical findings associated with OI vary greatly from case to case;The severity of OI also varies greatly, even among individuals of the same family; OI may be a mild disorder or may result in severe complications; Four main types of OI have been identified; OI type I is the most common and the mildest form of the disorder; OI type II is the most severe; In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits---------[NORD 2005] ---------------------
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- External Links Related to Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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