PubMed Health⌕ Search

Biomedical subjects

I Netriova

Publications and source records attributed to I Netriova.

3 recordsLinked to original sources

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.

Child↗

Mesomelic dysplasia: Langer type.

Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.

Adult↗

Micromelic dwarfism--humerus, femur, tibia type. Report of a case.

A 12.5-year-old girl with severe micromelic dwarfism and characteristic radiographic findings is reported. The most important phenotypic abnormality was dwarfism (stature < 100 cm); the patient had a normal face and intelligence. The diagnostic radiographic findings were those of spondylo-epimetaphyseal dysplasia characterized by severe shortening of humerus, femur and tibia, hypoplastic but normal-shaped fibula, ulna and radius, uniform shortening of the short tubular bones and moderately severe platyspondyly. These radiographic changes were already present at birth, which should make it possible to recognize the disease in the newborn. We propose naming this disorder micromelic dwarfism-humerus, femur, tibia type.

Child↗