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Biomedical subjects

C I Scott

Publications and source records attributed to C I Scott.

At least 19 recordsLinked to original sources
PubMed1992

New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies.

We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.

Aggression↗
PubMed1992

Study of color vision in fragile X syndrome.

Various theories have been postulated to account for the unusual inheritance pattern observed in the fragile X syndrome. The recent finding of a secondary amplification of the fragile X mutation in the offspring of carrier females [Oberle et al., 1991; Yu et al., 1991] is consistent with a maternal imprinting process. Laird [1987] has proposed that the fragile X mutation blocks complete reactivation of a previously inactivated fragile X chromosome. We have tested whether or not such a localized block extends as far distal as the red/green color-vision complex at Xq28. We found no evidence of color-vision defects among 25 male subjects with the fragile X syndrome. A fragile X positive woman also had normal color vision, despite being an obligate carrier of her father's gene for red/green color blindness. We conclude that the fragile X gene does not affect the function of neighboring color-vision genes, nor does it affect their ability to compensate adequately for inherited color deficiency on the homologous X chromosome in females.

Adolescent↗
PubMed1992

Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms.

Protrusio acetabuli (PA) in neurofibromatosis is not well documented in the literature. Two forms of PA, a nondysplastic and dysplastic type, are noted. Twenty-one percent of hips (13 patients) in neurofibromatosis were found to have some form of acetabular protrusion abnormality. In the control group (83 patients) without stigmata of neurofibromatosis, only 9% of hips were associated with PA. The progressive dysplastic form of PA is usually associated with contiguous soft-tissue neurofibromas and lumbar dural ectasia. The nondysplastic, nonprogressive form has less of an association with regional soft-tissue abnormalities and almost no association with dural dysplasia.

Acetabulum↗
PubMed1991

Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.

We have obtained lymphoblastoid cell lines from three patients with Langer-Giedion syndrome who have overlapping deletions in 8q24.1. To isolate the deletion chromosomes from their normal homologs, patient cell lines were fused with hamster cells and hybrid cells were selected for retention of human chromosome 8. These hybrid cell lines were screened for the presence of chromosome 8 by fluorescence in situ hybridization and by Southern blot hybridization. We have hybridized 31 recombinant DNA clones derived from the 8q22-qter region to Southern blots of the hybrid cell lines; 8 were found to lie within the deletion of at least one patient. One clone identified sequences that were missing from one copy of chromosome 8 in all three patients. These clones help to further define the deletions in these patients and will serve as starting points for detailed characterization of the region.

Animals↗
PubMed1990

Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis.

Acroosteolysis is a disease that primarily affects distal areas of extremities, with osteolysis involving the phalanges of the hand most commonly reported. Some authors have noted acroosteolysis to be acquired secondarily to the initiation of an immune complex disease that results in the vascular occlusion of the small arteries of the hand. Although the pathoetiology is unknown, the Hajdu-Cheney syndrome of idiopathic acroosteolysis is distinct from the other forms because a generalized skeletal dysplasia is the most distinct feature, and it is usually not present in early childhood. The purpose of this study is to present an unusual case of cervical instability in a girl with Hajdu-Cheney syndrome. This case not only demonstrates that cervical osteolysis and acroosteolysis can coexist and require primary surgical intervention but also that patients with these concurrent problems need to be monitored closely to identify any subsequent changes that may require secondary surgical stabilization.

Cervical Vertebrae↗
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↗
PubMed1978

The phenotypic variability of diastrophic dysplasia.

To determine the relationship between so-called "diastrophic variant" and diastrophic dysplasia, four patients considered to have the variant condition were studied in detail and compared to 67 patients (including 17 sets of affected sibs) considered to have classical diastrophic dysplasia. Analysis of the combined clinical, radiographic, histologic, and genetic data indicates that there is wide variability in the phenotypic expression of diastrophic dysplasia, even within sibships, and that those individuals previously labeled as having "diastrophic variant" appear to have mild diastrophic dysplasia.

Adult↗
PubMed1978

Standard growth curves for achondroplasia.

Standard growth curves for achondroplasia, the most common form of short-limbed dwarfism, have been constructed based on measurements of height, growth velocity, upper and lower segment, and head circumference in 400 achondroplastic dwarfs. These standard curves provide the basis to assess normal growth in these individuals, to aid in the determination of superimposed disorders, and to assess any growth accelerating therapy.

Achondroplasia↗
PubMed1977

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

Adolescent↗
PubMed1977

Heterogeneity of nonlethal severe short-limbed dwarfism.

The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.

Adult↗