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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 163 records · Page 9Linked to original sources

Soft-tissue tumors of the hand and wrist of children.

We report 23 children with soft-tissue tumors of the hand and wrist. Tumors of blood and lymph vessel origin accounted for nine patients; giant-cell tumors of tendon sheaths and tumoral calcinosis occurred in four patients each and soft-tissue chondroma in three. Synovial osteochondromatosis and aggressive fibromatosis were each represented by one patient. Finally, there was one child with a malignant soft-tissue tumor, an embryonal rhabdomyosarcoma of the hand. Hand and wrist ganglia were excluded. Imaging methods used in investigating hand and wrist lesions are discussed but plain radiography remains the first and often only examination necessary.

Adolescent↗

The rib gap anomaly in partial or mosaic trisomy 8.

Gaps in the first ribs were observed in two children, one with partial and the other with mosaic trisomy for chromosome 8. The sign may be considered in conjunction with other features as a relative indication for chromosomal studies.

Bone and Bones↗

Primary bone tumours of the hand. Report of 21 cases.

Twenty-one primary bone tumours of the hand in children from 8 paediatric hospitals are reported. Osteochondromas and enchondromas were not included. Our material consisted of 16 patients with common tumours (3 Ewing's sarcoma, 5 aneurysmal bone cyst, 6 osteoid osteoma and 2 epidermoid cyst) and 5 patients with uncommon tumours (osteoma, simple bone cyst, haemangiopericytoma, capillary angiomatous tumour and benign ossifying fibroma or osteoblastoma). The X-ray diagnosis of the common tumours should have high concordance with histology, whereas that of uncommon tumours is much more difficult and uncertain. The characteristic features of Ewing's sarcoma are stressed as all our children with this tumour had a delayed diagnosis and a fatal outcome. Differential diagnosis with other short tubular bone lesions of the hand - specifically osteomyelitis - is discussed and the possibilities of microscopic diagnosis are stressed.

Adolescent↗

A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases.

A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia.

Adolescent↗

Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage.

"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.

Child↗

Atelosteogenesis: evidence for heterogeneity.

Four cases of neonatal death dwarfism resembling atelosteogenesis but with some distinctive radiographic and characteristic histopathologic features are reported. The name atelosteogenesis II is proposed for this entity.

Bone and Bones↗

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Bone and Bones↗