title: Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.
abstract: The mesomelic chondrodysplasias are a heterogeneous group of dwarfing disorders characterized by shortness of the middle segments of limbs. We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of mesomelic dysplasia. Radiographic findings at necropsy included ulnar deviation of hands, talipes equinovarus, distal tapering of the humeri, and hypoplastic fibulae, radii, and ulnae. Chondro-osseous morphology showed mild shortness of the physeal columns, overgrowth of perichondral bone, peripheral ingrowth of mesenchymal cells into the physis, and numerous areas of fibrillar degeneration with rings of collagen surrounding the chondrocytes. Ultrastructural findings included a degenerated territorial matrix, pericellular halos of collagen, and dilated loops of rough endoplasmic reticulum in chondrocytes. The radiographic appearance of the long bones is distinct from that of previously described mesomelic dysplasias. The chondro-osseous morphologic findings and the distal tapering of the humerus are somewhat reminiscent of atelosteogenesis type II, but the pattern of matrix degeneration and the presence of inclusion bodies in the chondrocytes distinguish it from disorders of sulfate transport.
authors.affiliation: Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Brodie
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: B F
authors.initials: BF
authors.lastname: Crandall
authors.forename: M A
authors.initials: MA
authors.lastname: Fox
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D053674:Aggrecans; D064236:Cartilage Oligomeric Matrix Protein; D011508:Chondroitin Sulfate Proteoglycans / Q000276:immunology; D003094:Collagen / Q000276:immunology; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000276:immunology / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000276:immunology; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000276:immunology / Q000473:pathology; D006023:Glycoproteins / Q000276:immunology; D006801:Humans; D037181:Lectins, C-Type; D064235:Matrilin Proteins; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000276:immunology / Q000473:pathology; D011509:Proteoglycans / Q000276:immunology; D011859:Radiography; D053675:Versicans
chemical_list: D053674:Aggrecans; D064236:Cartilage Oligomeric Matrix Protein; D011508:Chondroitin Sulfate Proteoglycans; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D037181:Lectins, C-Type; D064235:Matrilin Proteins; D011509:Proteoglycans; C577553:TSP5 protein, human; C508322:VCAN protein, human; D053675:Versicans; D003094:Collagen