Abstract
A newborn male baby and two female relative with the Leri Weill's syndrome are described. The disease is a mesomelic dwarfism with mild to moderate shortness of stature and typical radiological deformation know as Madelung's deformity. In a family in which one or more individuals have typical disease, a relative with simple Madelung's deformity would be considered as affected.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Adult
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Craniofacial Dysostosis / diagnostic imaging
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Craniofacial Dysostosis / genetics
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Dwarfism / diagnostic imaging
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Dwarfism / genetics*
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Female
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Forearm / abnormalities
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Forearm / diagnostic imaging
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Humans
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Infant, Newborn
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Male
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Osteochondrodysplasias / classification*
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Osteochondrodysplasias / diagnostic imaging
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Osteochondrodysplasias / genetics
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Radiography
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Syndrome