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https://hdl.handle.net/2440/36590
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Type: | Journal article |
Title: | Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? |
Author: | Janssens, K. Thompson, E. Vanhoenacker, F. Savarirayan, R. Morris, L. Dobbie, A. Van Hul, W. |
Citation: | Clinical Dysmorphology, 2003; 12(4):245-250 |
Publisher: | Lippincott Williams & Wilkins |
Issue Date: | 2003 |
ISSN: | 0962-8827 1473-5717 |
Abstract: | We report a 56-year-old woman, mainly suffering from painful legs and the inability to run. Radiologically, marked sclerosis and hyperostosis of the skull bones is present resulting in macrocephaly. Most tubular bones of the limbs, as well as the clavicles, are affected by sclerosis. By mutation analysis of the TGFB1, SOST and LRP5 genes, we were able to exclude the diagnoses of Camurati-Engelmann disease, Van Buchem disease, sclerosteosis, high-bone-mass trait and endosteal hyperostosis (Worth type). We believe this patient represents one of the very few examples of adult craniodiaphyseal dysplasia with a mild form of the disease and moderate facial changes. |
Keywords: | Skull Humans Hyperostosis Craniofacial Abnormalities Transforming Growth Factor beta Adaptor Proteins, Signal Transducing Bone Morphogenetic Proteins LDL-Receptor Related Proteins Receptors, LDL Genetic Markers Severity of Illness Index Middle Aged Female Transforming Growth Factor beta1 Camurati-Engelmann Syndrome Low Density Lipoprotein Receptor-Related Protein-5 |
DOI: | 10.1097/00019605-200310000-00007 |
Published version: | http://dx.doi.org/10.1097/00019605-200310000-00007 |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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