Biomedical subjects
Publications and source records attributed to K Kozlowski.
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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.
A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraplegia. The unique radiographic changes consist of peripheral osteosclerosis affecting predominantly metaphyses of the long bones and to a lesser degree ends of the ribs and clavicles, iliac crests, acetabulae, ischio-pubic synchondroses and vertebrae. The epiphyses are sclerotic in early life. The round bones, short tubular bones and the skull are little affected. The shafts of the tubular bones are osteopenic. Increased serum alkaline phosphatase was the only laboratory abnormality detected. We suggest the name "osteosclerotic metaphyseal dysplasia" for this disorder.
A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.
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What an adolescent patient and her parents define as a gynecologic emergency often proves to be merely a prolonged period. Nevertheless, because gynecologic complaints can be serious, each patient must be thoroughly evaluated. Common problems include dysfunctional uterine bleeding (mild, moderate, or severe), ectopic pregnancy, pelvic inflammatory disease, spontaneous abortion, and abdominal pain. Diagnosis and management of each of these conditions are discussed in detail.
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The authors describe two Indonesian siblings affected by a hitherto undocumented form of metaphyseal dysplasia that simulates enchondromatosis. The notable clinical features were short stature and lateral bowing of the lower extremities. These features were readily recognizable at birth. The radiographic examinations showed that the metaphyseal anomalies were localized predominantly in the lower extremities, the hip joints being the most severely affected. The upper extremities showed only minimal abnormalities. The name "Indonesian type of metaphyseal dysplasia" is suggested for this autosomal recessive bone disorder.
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We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder.
The most common femoral shaft tumours in children are eosinophilic granuloma and Ewing's sarcoma. Three children in the first decade of life with rare femoral shaft tumours are reported. There was one osteosarcoma and two chondrosarcomas. Radiographic differential diagnosis of the femoral shaft tumours and microscopic diagnostic difficulties of chondrosarcoma are discussed.
We report a new disorder which we have called genochondromatosis II. The disorder is similar in mode of inheritance and long bone changes to that named genochondromatosis but shows some distinctive features, namely involvement of short tubular bones and normal clavicles. The disorder has a benign clinical course and may be discovered incidentally. Accurate diagnosis is important for proper genetic counselling.
Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.
Gout, a common disorder in adults is exceedingly rare in the first decade of life and uncommon in teenagers. A recent book on bone diseases in childhood does not even mention gout [7]. Childhood podagra with a radiographic findings is a very unusual finding indeed.
Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias.
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