title: Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis.
abstract: We describe the concurrence of severe distal osteolysis, mental retardation, short stature, and characteristic facial appearance with maxillary hypoplasia and relative exophthalmos in two adult sibs, a 57-year-old woman and her deceased brother. Apparently they represent a distinct, autosomal recessive entity in the group of the so-called essential osteolysis. Furthermore, this observation confirms that the facial changes that may occur in patients with essential osteolysis, ie, maxillary hypoplasia and relative exophthalmos, may be present in all types of osteolysis, independent of their localisation or inheritance.
mesh_terms: D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010014:Osteolysis / Q000235:genetics*; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography