title: Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia.
abstract: We describe a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. Subsequent severe bilateral hearing loss and facial diplegia with relative sparing of the optic nerves were noted. The long bones show extreme asymmetric hyperostosis and sclerosis of the diaphyses and evidence of a modelling defect in the metaphyses. The spine, ribs, clavicles, and pelvis all show some degree of sclerosis and defective modelling, but are less severely involved. According to the definition by Gorlin, this disorder would best be classified as craniodiaphyseal dysplasia. Distinguishing features in these two patients as contrasted to previously described cases include a greater degree of hyperostosis and sclerosis than that described for other patients with craniodiaphyseal dysplasia, apparent dominant transmission, and significant metaphyseal involvement.
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*