A new form of rhizo-mesomelic bone dysplasia.
A new form of rhizo-mesomelic dwarfism in an 8 1/2-year-old gypsy Slovakian girl is reported. This patient shows some superficial similarity to patients with Robinow syndrome. However, different facies, normal external genitalia and absence of radiographic abnormalities characteristic of Robinow syndrome (malsegmentation of the spine and ribs, short, small tubular bones and bifid terminal phalanges) as well as mesomelic hypoplastic/dysplastic changes in the forearm bones allow us to separate this disorder as a distinctive entity.
Baxova
A
A
Department of Clinical Genetics, Dererova Nemocnica, Bratislava, Slovakia.
Kozlowski
K
K
Netriova
I
I
D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography