Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?
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Published on: August 24, 2013
K Rosendahl1, K Maurseth, Olsen ØE
1Department of Paediatric Radiology, Haukeland University Hospital, 5021 Bergen, Norway. kros@haukeland.no
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.
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