title: Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases.
abstract: Data on twenty-two infants with lethal neonatal short-limbed platyspondylic dysplasia are reported. Thanatophoric dysplasia (TD) is the most frequent diagnosis in this group. TD combined with a cloverleaf skull (CS), has been variably classified. TD type 1 with curved femora is rarely combined with CS; TD type 2 with straight femora is almost always associated with CS. Other varieties of TD, known as 'Torrance', 'San Diego' or 'Luton' types, are separate entities. Apart from the differences in radiography and osteochondrohistology, the temporal-lobe abnormalities seen in TD were absent in one of the cases of the 'Torrance' variety. There were also differences in the composition of the cartilage glycosaminoglycans between this case and TD. Nearly all of the cases of these different types mentioned in the literature, including those of this study group, have been sporadic and may result from new dominant mutations. Documentation and classification by full (postmortem) radiography and osteochondrohistology is essential for two reasons. It will be the foundation for the clinical geneticist to inform the parents about the risk of recurrence. It will also be the basis for a biochemical or molecular-biological classification in the near future.
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: P G
authors.initials: PG
authors.lastname: Barth
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 Geijn
authors.forename: N F
authors.initials: NF
authors.lastname: Arts
mesh_terms: D001921:Brain / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D005865:Gestational Age; D006025:Glycosaminoglycans / Q000097:blood; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D016216:Ultrasonography, Prenatal
chemical_list: D006025:Glycosaminoglycans