Biomedical subjects
Publications and source records attributed to K Kozlowski.
The authors describe two children with spondylometaphyseal dysplasia, Sutcliffe type. This easily recognizable form of bone dysplasia is characterized by coxa vara, minimal metaphyseal changes, oval vertebral bodies and metaphyseal corner fractures later in life. It is probably the most common type of spondylometaphyseal dysplasia. Early diagnosis is important for proper management.
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We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.
We report on a further case of a recently described type of spondylo-metaphyseal dysplasia in a 12(10/12)-year-old Polish boy. The original paper described the disorder in five relatives in an Algerian family.
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Three patients with Ehlers-Danlos syndrome have been observed to have isolated flattening of the lumbar vertebral bodies. Flattening of the lumbar vertebrae with normal appearance of the rest of the spine may be an important radiological clue to early recognition or confirmation of the diagnosis of Ehlers-Danlos syndrome.
A 4-year-old boy presented with a mass in the left groin. Radiographic examination demonstrated that the soft-tissue mass contained calcification and was encroaching on the left femur. The pre-biopsy clinico-radiographic diagnosis was that of some sort of sarcoma. The pathological findings identified the mass as infantile myofibromatosis. This case serves to stress the need for greater caution in the clinico-radiographic diagnosis of soft-tissue tumors.
Stress fracture of fibula in athletes and ballet dancers is a well recognised entity. Fibular fractures in children in the first decade of life who are not active in sport or ballet dancing are not well known and often diagnosed as osteomyelitis or malignant bone tumour. This misdiagnosis may be followed by CT, nuclear scan or MR. All these investigations are not necessary and biopsy if performed might even be misleading. The plain X-rays show diagnostic radiographic findings and a misdiagnosis is highly unlikely especially when they are evaluated in the context of clinical findings.
A case of Ewing sarcoma in a girl 13 year-old with multiple bone and soft tissue lesions at the time of diagnosis is presented. The lungs were free from the disease. This patient represents most likely a simultaneous (synchronous) Ewing sarcoma.
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A newborn with rhizomelic bone dysplasia with club-like femora is reported. This is the fourth case of this easily recognizable, recently reported, congenital bone disease. Maroteaux et al recently reported two patients with rhizomelic bone dysplasia and club-like femora as a distinctive new bone dysplasia. Their observation was confirmed by Gugliantini et al (2) who reported another case. This paper reports a fourth patient with this easily recognisable disorder.
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A summary is presented of available information regarding the special characteristics and needs of hearing-impaired alcoholics and drug addicts. The various obstacles to this population receiving treatment are seen to be made even more formidable by apparent minimal adherence in the chemical dependency field to the legal mandate that agencies and institutions that receive federal funding must provide services that are accessible to disabled persons. The Illinois Task Force on Substance Abuse Among the Hearing Impaired was established to examine the needs of this population in Illinois. The results of a needs assessment conducted by the Task Force are summarized. The conclusion is reached that the minimal accessibility of hearing-impaired individuals to substance abuse treatment reported in the literature extends to Illinois as well. The concerns of agencies in attempting to meet the needs of this population are cited. Specific recommendations are made to changes in programming intended to improve the level of substance abuse services accessible to hearing-impaired individuals.
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Twenty-six cases of rare primary cranial vault tumors are reported, together with 4 cases of primary tumors of the base of the skull and 3 cases of monostotic cranial neuroblastoma. Whereas some rare primary cranial vault tumors may present with characteristic radiographic patterns (e.g. hemangioma, aneurysmal bone cyst, osteoma, progonoma), most of them can be recognised only after histology. The most frequent tumor in the region of previous irradiation is osteosarcoma. The only "common" primary bone tumor of the base of the skull is chordoma. The radiological differential diagnosis of primary tumors of the skull vault and base is discussed.
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An unusual case of multicentric/multifocal osteolysis with unique clinical and radiographic features in a 17-year-old girl is reported. The brother of the patient who was probably also affected could not be examined.