Biomedical subjects
Publications and source records attributed to A Baxova.
We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.
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Since the characteristic mesomelic limb abnormalities of the autosomal-dominant Nievergelt syndrome (NS) may be casually nonspecific, we are unsure whether our patient with these abnormalities but also with severe, symmetrical hand and foot anomalies has an unusual form of Nievergelt syndrome or a previously apparently undescribed syndrome. This infant's condition could represent an autosomal-dominant new mutation, or an autosomal or X-linked recessive disorder.
A 6-month-old boy with opsismodysplasia is reported. The purpose of this paper is to draw attention to severe ureteric reflux and incidence of pseudo-obstruction, findings not previously reported in opsismodysplasia. They are most likely the result of an intrinsic neuromuscular defect which also affects the skeletal muscles. Another new feature, not reported in opsismodysplasia, was dilatation of ventricles probably secondary to brain atrophy.
Nine members of a family with foramina parietalia permagna (FPP), inherited as an autosomal dominant trait are reported. Although usually benign, FPP may be associated with other malformations.
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A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported.
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.
Radiographic abnormalities in two children with Laron dwarfism are described. In addition to a characteristic bone age, which was retarded for the chronological age but advanced for the height of the patients, there were marked skull changes and minor skeletal abnormalities in the long bones and vertebrae. Such findings on a skeletal survey should lead the radiologist to suspect the disorder.
Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.
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.