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Biomedical subjects

Kazimierz Kozlowski

Publications and source records attributed to Kazimierz Kozlowski.

8 recordsLinked to original sources
PubMed2006

A novel form of ischio-vertebral syndrome.

We report a boy with ischial hypoplasia, vertebral malsegmentation and multiple other skeletal anomalies which do not fit well with any previously-described disorder. The proband's brother and mother were also slightly affected. We review the pertinent literature, discuss the differential diagnosis and suggest that this may be a previously unreported autosomal dominant disorder, with variable penetrance.We believe that the clinical and radiological features of various syndromes with ischial aplasia/hypoplasia and vertebral malsegmentation are not sufficiently different to justify the current separate categories of "ischio-vertebral dysplasia" and "ischio-spinal dysostosis". We suggest that the term "ischio-vertebral syndrome" should be used until identification of genes affecting ischial and axial morphogenesis is completed.

Adolescent↗
PubMed2005

Severe, atypical form of dyschondrosteosis (report of two cases).

UNLABELLED: We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found. CONCLUSION: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.

Adult↗
PubMed2004

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.

OBJECTIVE: To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings. RESULTS AND CONCLUSIONS: The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.

Adolescent↗
PubMed2003

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.

A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre- and postnatal spontaneous mobility, and early fatal outcome. The chondro-osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia.

Dwarfism↗
PubMed2003

Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease.

Radiograms of 173 children with unilateral Perthes disease were reviewed with particular reference to the presence of flattening and irregularity of the 'unaffected' epiphyses. The slope and shape of the growth plate were also evaluated. About 35% of children with Perthes disease showed changes of the unaffected proximal femur in the first radiograms of the hip joints. These consisted of small epiphysis, flattening of the epiphysis, contour irregularities (20%), and changes in the growth plate (15%). The radiographic abnormalities were not accompanied by any clinical symptoms of the asymptomatic hip joint and they receded with age during treatment.

Age Factors↗
PubMed2002

Gracile bone dysplasias.

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons.

Bone Diseases, Developmental↗
PubMed2002

Lethal non-rhizomelic dysplasia epiphysealis punctata.

We describe two new cases of a rare form of lethal chondrodysplasia punctata (so-called X-linked dominant, non-rhizomelic form), a condition characterized by widespread multicentric stippled calcifications of the cartilaginous parts of the long bones, spine, ribs and flat bones. The mother of one of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. We suggest that a skeletal survey, including lateral view of the spine, together with biochemical studies of peroxisomal status are indicated in all newborns with severe, unusual forms of chondrodysplasia punctata. In this way, accurate categorization of the lethal, non-rhizomelic types of this condition will be facilitated.

Adult↗