Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

2013 ◽  
Vol 28 (4) ◽  
pp. 848-854 ◽  
Author(s):  
Antoon H van Lierop ◽  
Neveen AT Hamdy ◽  
Martje E van Egmond ◽  
Egbert Bakker ◽  
Freek G Dikkers ◽  
...  
Keyword(s):  
Van Buchem Disease

scholarly journals Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

Van Buchem Disease and Sclerosteosis

2009 ◽  
pp. 2161-2162
Author(s):  
Wendy Balemans ◽  
Wim Van Hul ◽  
Marian Valko ◽  
Jan Moncol ◽  
Lee A. Denson ◽  
...  
Keyword(s):  
Van Buchem Disease

Clinical Correlate: Van Buchem Disease

2013 ◽  
pp. 71-77
Author(s):  
H.-J. Prins ◽  
A.L.J.J. Bronckers ◽  
J. Klein-Nulend
Keyword(s):  
Van Buchem Disease ◽  
Clinical Correlate
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