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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Received: 6 March 2000 Revised: 3 October 2000 Accepted: 15 March 2001
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Rosendahl, K., Maurseth, K., Olsen, Ø. et al. Neonatal lethal dwarfism with distinct skeletal malformations – a separate entity?. Pediatric Radiology 31, 663–668 (2001). https://doi.org/10.1007/s002470100520
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DOI: https://doi.org/10.1007/s002470100520