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Biomedical subjects

C I Scott

Publications and source records attributed to C I Scott.

At least 55 records · Page 3Linked to original sources
PubMed1989

Identification of avascular necrosis in the dysplastic proximal femoral epiphysis.

Bilateral radiographic irregularities and deformities of the proximal femoral epiphyses are features of both multiple epiphyseal dysplasia and bilateral idiopathic avascular necrosis. In the past these entities have been difficult to differentiate. This report documents radiographically the occurrence of avascular necrosis in 10 patients with multiple epiphyseal dysplasia by recognizing the super-imposition of sclerosis and subchondral fissuring on pre-existing symmetrically irregular proximal femoral ossification centers. Scintigraphic (photopenia) or magnetic resonance (loss of signal) criteria of avascular necrosis confirm its added presence and help to establish an imaging scheme to identify avascular necrosis superimposed on multiple epiphyseal dysplasia.

Adolescent↗
PubMed1989

Scintigraphic differentiation of congenital soft-tissue extremity enlargement with Tc-99m DTPA.

Radionuclide imaging of benign soft-tissue tumors sometimes associated with extremity enlargement (7 patients) and/or osteodysplasia (6 patients) has demonstrated, in a total of 18 patients, several differentiating patterns of accumulation of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA). Early imaging (within 15 min) as well as later imaging (one-half hour to 3 hours following the intravenous injection of the radiopharmaceutical) has shown that fatty tumors (lipomas, lipoblastomas, fibrofatty tissue) do not concentrate the isotope. Neurofibromas display gradual intensification of their radioactive content, while hemangiomas differ in their scintigraphic pattern depending on their histologic composition. Purely capillary hemangiomas have transient early intense activity while purely cavernous hemangiomas display no early activity but are well visualized on delayed scintigraphic images. Mixed hemangiomas display combined imaging characteristics of both capillary and cavernous types with the predominant pattern dependent upon the predominant histology. Aggressive fibromatosis exhibited an early fleeting display of intense radioactivity.

Child↗
PubMed1988

Dwarfism.

Explore the source record for details and available documents.

Child↗
PubMed1987

The Nager syndrome.

The Nager syndrome was identified in a newborn infant and in a subsequent sib by prenatal ultrasonography. This report documents an autosomal recessive pattern of inheritance for this disorder.

Abnormalities, Multiple↗
PubMed1986

Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities. A new syndrome.

Two sisters exhibit arthrogrypotic changes in the lower extremities associated with a previously undescribed pelvic dysplasia. The pelvic dysplasia is characterized by: severe abnormalities of ossification with markedly widened triradiate cartilages; irregular, notched acetabulae; marked hypoplasia of the ilia; notching of the iliac wings; and delayed ossification of the capital femoral ossific nucleus. The elder girl has bilateral clubfeet, as well as flexion contractures of both knees. The younger girl has a right talipes equinovarus and left hip dislocation. Autosomal recessive inheritance is suggested. This distinctive syndrome should be considered in the differential diagnosis of the patient with arthrogryposis.

Arthrogryposis↗
PubMed1985

Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.

Computerized tomographic dimensions of the foramen magnum of 63 achondroplastic individuals were compared to standards established for nonachondroplastic individuals. The size of the foramen magnum in patients with achondroplasia was small at all ages, particularly in those with serious neurologic problems. The data suggest that measurement of the foramen magnum may identify achondroplastic individuals at high risk of developing neurologic complications.

Achondroplasia↗
PubMed1985

De novo paracentric inversion in an X chromosome.

A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome.

Bone and Bones↗
PubMed1984

Progressive neurologic deterioration and renal failure due to storage of glutamyl ribose-5-phosphate.

A six-year-old boy presented with a history of seizures, progressive neurologic deterioration, and proteinuria. Physical examination revealed mildly coarse facies, failure to thrive, generalized hypotonia with muscle wasting, and optic atrophy; there was no organomegaly. The family history suggested an X-linked recessive inheritance. The electroencephalogram, electroretinogram, evoked potentials, and computed axial tomography of the brain were abnormal. Urine oligosaccharide chromatography, urine amino acids and organic acids, and results of leukocyte and fibroblast lysosomal-enzyme assays for the known storage diseases were normal; however, conjunctival and renal biopsy specimens contained enlarged lysosomes on electron microscopy. The patient had progressive neurologic deterioration and died of renal failure at eight years of age. A compound identified as glutamyl ribose-5-phosphate was purified from the brain (0.96 mumol per gram, wet weight) and kidney (0.60 mumol per gram, wet weight). This compound is the linkage group in ADP-ribosylation of proteins, an important regulatory process in gene expression and DNA repair. We believe this new disorder represents a glycoproteinosis that results in the cytoplasmic storage of glutamyl ribose-5-phosphate.

Brain↗
PubMed1984

Reproduction in XYY males: two new cases and implications for genetic counseling.

We present two children--one, 47,XY, + mar, and the other, 47,XY, + 21. Both fathers were found to have a 47,XYY chromosome constitution. The initial assumption was that the fathers' aneuploid conditions contributed to those of the offspring. However, the derivation of the marker chromosome could be paternal, maternal, or postzygotic, and examination of polymorphic structures of the number 21 chromosomes of the child with Down syndrome and his parents suggested maternal derivation of the supernumerary 21. To explore further the reproductive risks of an individual with the XYY constitution, previous reports of reproductive performance and testicular histology are examined as are two theories which suggest XYY males may be at an increased risk of producing aneuploid progeny. Based on these reports, recommendations are made for testing XYY males prior to genetic counseling.

Aneuploidy↗
PubMed1984

Long-term neurological sequelae in achondroplasia.

Two children with achondroplasia and neurologic sequelae secondary to foramen magnum compression were found to have syringomyelia. In one patient, the cyst was associated with a subependymal glioma. These findings suggest that foramen magnum stenosis may lead to irreversible spinal cord damage.

Achondroplasia↗
PubMed1984

Apnea and sudden unexpected death in infants with achondroplasia.

Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.

Achondroplasia↗
PubMed1984

Genetic study of an orthopedic referral center.

A prospective study of patients seen at the Shriners Hospital for Crippled Children, Houston Unit, showed that there is a substantial genetic component to orthopedic disorders. A mean of 25% of new patients and 46% of specialty clinic patients had orthopedic diseases of genetic etiology. The respective single gene component was 7.2% and 12.9%. Rare disorders were observed, and some of these are discussed. The results indicate that genetic counseling should be an integral part of orthopedic care.

Adolescent↗
PubMed1984

Trisomy 7 and Potter syndrome.

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35-week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low-set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker-bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.

Abnormalities, Multiple↗
PubMed1984

Short-latency somatosensory evoked potentials in the management of patients with achondroplasia.

Twenty-three patients with achondroplasia were evaluated using short-latency somatosensory evoked potentials (SEPs) of median and peroneal nerves. Abnormal studies were found in 61%. All patients with neurologic signs or symptoms had abnormal SEPs, with good correlation between SEP results and the level of the lesion determined clinically and radiographically. SEPs were abnormal in 44% of neurologically intact achondroplasts, several of whom had CTs confirming significant foramen magnum stenosis. SEPs are an important noninvasive means of evaluating patients with achondroplasia and are particularly valuable in children to document neurologic compromise before significant and perhaps irreversible clinical impairment develops.

Achondroplasia↗
PubMed1984

A genetic study of an orthopedic referral center.

There is a substantial genetic component in the orthopedic population studied. Twenty-five percent of the new patients and 46% of the specialty clinic populations had a genetic disorder. The single-gene component was 7.2% and 13% in these two patient populations studied. In comparison to the previously studied pediatric populations, the single-gene component was almost double that found in the inpatient pediatric population, and seven times greater than that in the outpatient pediatric population. Our results suggest that genetic counseling should play an important part in orthopedic care and management, especially at the orthopedic and tertiary referral centers.

Bone Diseases↗