title: Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?
abstract: We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism.
authors.affiliation: Department of Paediatric Radiology, Haukeland University Hospital, 5021 Bergen, Norway. kros@haukeland.no
authors.forename: K
authors.initials: K
authors.lastname: Rosendahl
authors.forename: K
authors.initials: K
authors.lastname: Maurseth
authors.lastname: Olsen ØE
authors.forename: O J
authors.initials: OJ
authors.lastname: Halvorsen
authors.forename: K
authors.initials: K
authors.lastname: Gjelland
authors.forename: L
authors.initials: L
authors.lastname: Engebretsen
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000145:classification* / Q000000981:diagnostic imaging; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013577:Syndrome