Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?

K Rosendahl; K Maurseth; Olsen ØE; O J Halvorsen; K Gjelland; L Engebretsen

doi:10.1007/s002470100520

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Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?

K Rosendahl·K Maurseth·Olsen ØE·O J Halvorsen·K Gjelland·L Engebretsen

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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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Bone Diseases, Developmental Dwarfism Female Fetal Death Humans Infant, Newborn Radiography Syndrome Case Reports Journal Article Review

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K Rosendahl, K Maurseth, Olsen ØE, O J Halvorsen, K Gjelland, L Engebretsen. 2001. Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?. https://doi.org/10.1007/s002470100520

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