Disease Information for Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)

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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

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)
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Wikipedia
Merck
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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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