title: Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases.
abstract: In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special attention. We describe 23 cases representing the different subtypes. Within the classical type I (Parenti-Fraccaro) two distinct disorders can be recognized: type IA (Houston-Harris) and type IB (Fraccaro). The classical type II (Langer-Saldino) and hypochondrogenesis represent phenotypic variants of one disorder in which type II is the most severe form and hypochondrogenesis the mildest form, while transitional forms exist. It is likely that a basic defect in cellular function of the chondrocyte results in a deficient cartilage matrix and in disorganized enchondral ossification.
authors.affiliation: Department of Pathology, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: van der Harten
authors.forename: J T
authors.initials: JT
authors.lastname: Brons
authors.forename: P F
authors.initials: PF
authors.lastname: Dijkstra
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeyer
authors.forename: C J
authors.initials: CJ
authors.lastname: Meijer
authors.forename: H P
authors.initials: HP
authors.lastname: van Giejn
authors.forename: N F
authors.initials: NF
authors.lastname: Arts
mesh_terms: D001857:Bone Matrix / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002356:Cartilage / Q000473:pathology; D005260:Female; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011859:Radiography; D009626:Terminology as Topic; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography