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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 19 recordsLinked to original sources
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

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↗
PubMed1994

Free radical adducts induce alterations in DNA cytosine methylation.

Methylation of cytosines in DNA is important for the regulation of expression of many genes. During carcinogenesis, normal patterns of gene methylation can be altered. Oxygen radical injury, shown to damage DNA in a variety of ways associated with cancer development and other conditions, has been suggested to affect DNA methylation, but a mechanism has not been demonstrated. Using oligonucleotides containing the common oxygen radical adduct 8-hydroxyguanine to replace guanine, we found that the enzymatic methylation of adjacent cytosines is profoundly altered. Furthermore, there is a high degree of positional specificity with respect to this effect. Thus, free radical injury may explain some of the altered methylation observed during carcinogenesis.

Base Sequence↗
PubMed1994

Case report 870. Schneckenbecken dysplasia, possibly a new variant.

We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by variability or genetic heterogeneity.

Bone and Bones↗
PubMed1994

Japanese type of spondylo-metaphyseal dysplasia.

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

Adult↗
PubMed1994

Radiographic abnormalities in Laron dwarfism.

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.

Bone and Bones↗
PubMed1994

Osteomesopycnosis.

The radiographic findings in two children with osteomesopycnosis are described. This is the first report in the Australian literature of this uncommon, recently described entity.

Adolescent↗
PubMed1994

Mesomelic dysplasia: Langer type.

Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.

Adult↗
PubMed1994

Hajdu-Cheney syndrome in a 3 1/2 year old girl.

Hajdu-Cheney acro-osteolysis is reported in a 3 1/2 year old girl whose mother has the syndrome. Acro-osteolysis was shown to be absent at the age of 2 1/2 years. It was demonstrated on hand X-rays performed a year later. This is the youngest case of Hajdu-Cheney acro-osteolysis reported in the literature.

Child, Preschool↗
PubMed1994

Dysspondyloenchondromatosis in the newborn. Report of four cases.

Dysspondyloenchondromatosis is a rare form of generalised enchondromatosis with hypoplastic/dysplastic changes in the lower thoracic and upper lumbar spine. The disease presents at birth as neonatal dwarfism and is characterised later in life by marked shortening of stature, unequal length of the extremities and early development of kyphoscoliosis. We report four newborn babies--three boys and a girl--with dysspondyloenchondromatosis, who had skeletal survey performed shortly after birth. The condition can be established in the newborn, as the radiographic examination (skeletal survey) shows diagnostic radiographic findings.

Child↗
PubMed1994

Mesomelic dysplasia.

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Abnormalities, Multiple↗