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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 73 records · Page 4Linked to original sources
PubMed1997

Generalised bone disease with abundant periosteal reaction in megakaryocytic leukaemia.

UNLABELLED: We report an 18-month-old boy with trisomy 21 who presented with abundant, symmetrical periosteal hyperostosis and generalised osteolytic bone disease. Although adequate cytological and immunological studies have not been performed, the clinical course, routine blood and marrow studies allowed us to recognise megakaryoblastic leukaemia (ML) as the cause of these unique X-ray appearances. CONCLUSION: We present a unique case of generalised bone disease in an infant with trisomy 21. The appearances--clinical course and radiographic appearances--are consistent with ML. Such severe bony changes have not yet been reported in this association. This observation widens the spectrum of ML.

Down Syndrome↗
PubMed1997

Opsismodysplasia: a case report.

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.

Atrophy↗
PubMed1996

Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy.

Stüve-Wiedemann osteochondrodysplasia is a rare disorder with distinct clinical and diagnostic radiographic findings. The condition is classified as a bent-bone dysplasia with early, lethal outcome. We report on a boy with Stüve-Wiedemann syndrome who is well and alive at the age of 3 1/2 years.

Bone and Bones↗
PubMed1996

Stress fractures of the fibula in the first few years of life (report of six cases).

Fibular stress fractures in children in the first few years of life are not well known and are often confused with osteomyelitis or malignant bone tumour. This misdiagnosis is followed by nuclear scan, computerized tomography (CT), magnetic resonance (MR) imaging and even biopsy. All these investigations are unnecessary as plain X-rays show diagnostic radiographic findings and misdiagnosis is highly unlikely when they are evaluated in the context of clinical findings.

Child, Preschool↗
PubMed1996

Dysosteosclerosis.

A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.

Bone and Bones↗
PubMed1996

Lethal kyphomelic dysplasia.

A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported.

Diagnosis, Differential↗
PubMed1995

Small patella syndrome.

We report on 2 sporadic cases of small patella syndrome (coxo-podo-patellaire syndrome) most probably representing new mutations. Both children showed retarded patellar bone age (small patellae in Patient 1 and absent patellae in Patient 2) and pelvic abnormalities. Patient 1 who was fully investigated had an unusual facies with characteristic morphological abnormalities of the forefoot and generalized bone changes. Patient 2 was not available for examination and only X-ray films of his knees, pelvis, and chest were available. These were all abnormal. He was said to have an "unusual facies" with flattened nose and prominent forehead but no further information was available. We think that small patella syndrome (coxo-podo-patellaire syndrome) is a generalized bone dysplasia with morphological and diagnostic radiographic appearances.

Adolescent↗
PubMed1995

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↗
PubMed1995

Swollen ischiopubic synchondrosis: a dilemma for the radiologist.

Differences in size and shape of ischiopubic synchondrosis in childhood may present problems in diagnosis and differential diagnosis. Whereas asymptomatic swollen ischiopubic synchondrosis represents a normal ossification process, painful swelling is a symptom of underlying pathology. Five children are described with symptomatic ischiopubic synchondrosis swelling, four representing stress reaction and one with osteomyelitis. Radiologists should be careful when reporting on swollen ischiopubic synchondrosis in symptomatic children.

Child↗
PubMed1995

Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.

Bone Diseases, Metabolic↗
PubMed1995

Case report: neonatal platyspondylic dwarfism--a new form.

A new type of neonatal bone dysplasia is reported. Unusual radiographic abnormalities (platyspondyly with unique shape of the vertebral bodies, shortening of the long tubular bones without signs of rickets or metaphyseal dysplasia, marked shortening of well-ossified short tubular bones, schneckenbecken-like pelvis with tri-radiate acetabulum, pseudoepiphysis of the right ulna, unusual shape of calcaneus and periarticular calcifications) allow designation of this disorder as a new form of neonatal dwarfism.

Abnormalities, Multiple↗
PubMed1995

Metachondromatosis.

OBJECTIVES: To draw attention to metachondromatosis, which may be misdiagnosed as multiple osteochondromatosis, and to point out several findings that have not been emphasized in previous reports. PATIENTS AND METHOD: The authors reviewed the relevant clinical and detailed radiographic findings for five patients from different countries, who underwent imaging at various ages during childhood. RESULTS: Deformities resembling exostoses and punctate calcification were distinctive and represent previously unemphasized features of vertebral involvement in metachondromatosis. Widespread metaphyseal changes were best seen in the femoral necks, which were broad and showed prominent cartilage columns in all of the patients. Flattening of the femoral heads was observed in three patients; in one of these the flattening progressed to epiphyseal necrosis and coxa magna. In one patient the hands and feet showed no enchondromatous involvement. CONCLUSION: Metachondromatosis is a generalized bone dysplasia predominantly affecting the tubular bones and, to a lesser degree, flat bones and the vertebral column. Significant complications may include avascular necrosis of the femoral head and progressive deformity of the small joints due to expanding local exostoses. The typical involvement of the hands and the feet may not always be seen.

Adolescent↗