title: Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: Katrien
authors.initials: K
authors.lastname: Janssens
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Thompson
authors.forename: Filip
authors.initials: F
authors.lastname: Vanhoenacker
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Lloyd
authors.initials: L
authors.lastname: Morris
authors.forename: Angus
authors.initials: A
authors.lastname: Dobbie
authors.forename: Wim
authors.initials: W
authors.lastname: Van Hul
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019485:Bone Morphogenetic Proteins / Q000235:genetics; D003966:Camurati-Engelmann Syndrome / Q000235:genetics* / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D015576:Hyperostosis / Q000235:genetics / Q000473:pathology; D026502:LDL-Receptor Related Proteins; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008875:Middle Aged; D011973:Receptors, LDL / Q000235:genetics; D012720:Severity of Illness Index; D012886:Skull / Q000002:abnormalities*; D016212:Transforming Growth Factor beta / Q000235:genetics; D053773:Transforming Growth Factor beta1
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D019485:Bone Morphogenetic Proteins; D005819:Genetic Markers; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL; C422903:SOST protein, human; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1