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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 271 records · Page 15Linked to original sources
PubMed1976

Long survival in thanatophoric dwarfism.

A case of thanatophoric dwarfism living for 10 weeks with minimal supportive care is presented. Although early death is usual, survival for months is compatible with the diagnosis.

Dwarfism↗
PubMed1976

Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form.

Two cases of the latent form of Asphyxiating Thoracic Dystrophy or Asphyxiating Thoracic Dystrophy without respiratory disease or respiratory problems are reported. The skeletal survey was diagnostic in both of them. In the first case it was performed after the pelvic film, ordered because of externally rotated thighs, showed triradiate acetabulum. In the second case the skeletal survey was requested because of undiagnosed mental retardation syndrome.

Bone Diseases, Developmental↗
PubMed1975

Stickler syndrome. Report of a second Australian family.

Three cases of Stickler Syndrome (hereditary progressive arthro-ophthalmopathy) in a family are described. This disease is caused by a dominant gene with incomplete penetrance, and shows variability in its symptomatology and clinical and radiographic findings among members of the same families. The radiographic appearances, although seldom diagnostic, are often suggestive of the disease or supportive in doubtful cases.

Australia↗
PubMed1975

Larsen's syndrome;.

Three cases of Larsen's syndrome with retospective diagnoses have been described. All of them had both the clinical and radiographic signs characteristic for the syndrome, namely flat, hyperteloric facies, multiple dislocations of the joints, club foot deformity, and long cylindrical fingers. The radiographic findings were generalized and diagnostic in all of the cases. Our patients had additional ossification centers for the body of calcaneus.

Abnormalities, Multiple↗