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Biomedical subjects

C I Scott

Publications and source records attributed to C I Scott.

At least 37 records · Page 2Linked to original sources
PubMed1995

Genetic heterogeneity in multiple epiphyseal dysplasia.

Multiple epiphyseal dysplasia (MED) comprises a group of hereditary chondrodysplasias in which there are major anatomic abnormalities of the long tubular bones. The Fairbank and Ribbing types are the most frequently cited types of MED. They are primarily defined radiographically and are autosomal dominant conditions. Recently, MED in one family was shown to map to the pericentromeric region of chromosome 19 and is probably allelic to pseudoachondroplasia. We have tested linkage with six short tandem repeat markers from chromosome 19 to autosomal dominant MED in one four-generation family and to MED in a unique family with three of seven siblings affected and with unaffected parents. Autosomal dominant MED in family 1 was linked with a maximum LOD score, at D19S212, of 3.22 at a recombination fraction (theta) of .00. Linkage to chromosome 19 was excluded with MED in the other family, under both autosomal recessive and autosomal dominant, with either reduced-penetrance or germ line-mosaicism models. Linkage to candidate genes COL9A1, COL9A2, and COL11A2 was tested and excluded for both genetic models in this family. COL11A1 was excluded under a recessive model. We have confirmed linkage of autosomal dominant Fairbank MED to chromosome 19 and have demonstrated that MED is genetically heterogeneous.

Adult↗
PubMed1994

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Aarskog-Scott syndrome was tentatively mapped to Xq13 on the basis of an X:8 translocation by Bawle et al. [Am J Med Genet 17:595-602, 1984]. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q11.21 [Glover et al., Hum Mol Genet 2:1717-1718, 1993]. Two families, including one of the two initial families with Aarskog-Scott syndrome [Scott, BD:OAS VII (6): 240-246, 1971], have participated in our study to evaluate the localization of the gene for Aarskog-Scott syndrome to the pericentromeric region of the X chromosome. Using a series of DNA probes, we have been able to confirm linkage to the X chromosome, with multipoint analysis indicating the most likely localization of the gene to be on the proximal short arm.

Abnormalities, Multiple↗
PubMed1994

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.

Abnormalities, Multiple↗
PubMed1994

The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the telomere of the short arm of chromosome 4 (4p16.3), by family linkage studies using 14 pedigrees. A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization will facilitate the positional cloning of the disease gene.

Achondroplasia↗
PubMed1994

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome.

The authors have observed a hand- and arm-squeezing behavior that seems to be highly characteristic of Smith-Magenis syndrome (SMS). This behavior serves as a useful diagnostic marker for SMS, a disorder in which the physical phenotype is often subtle. The squeezing behavior appears to be part of a complex upper-body tic which is exacerbated by happiness, excitement or overstimulation. The tic most often manifests as a 'self-hug', and is frequently associated with facial grimacing. Fleeting arm- and hand-squeezing movements may be repeated hundreds of times over the course of a day, but they do not significantly interfere with other hand functions. The excitable self-hugging in people with SMS may be one of the more benign and appealing aspects of their behavioral phenotype.

Adolescent↗
PubMed1993

Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome.

We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17p11.2, otherwise known as the Smith-Magenis syndrome (SMS). The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. We have previously reported high myopia and retinal detachments in 6 patients with SMS (Finucane et al.: Am J Hum Genet 49:262A, 1991). We present additional details on these individuals, as well as findings in 4 newly reported patients. Ocular pathology appears to be very common in SMS, significantly contributing to disability in people with this syndrome. The combination of high myopia, self-injurious head-banging, aggression, and hyperactivity among these patients makes them particularly susceptible to retinal detachments. Detailed ophthalmologic assessment should be included in the clinical work-up and monitoring of all patients with SMS resulting from deletion 17p11.2.

Adolescent↗
PubMed1993

Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome.

We describe a 14-year-old boy with physical and behavioral manifestations of the Smith-Magenis syndrome. Low level mosaicism (11%) for deletion 17p11.2 was found in peripheral blood lymphocytes. The deletion was also observed in 100% of metaphases examined from skin fibroblast cultures. We confirm that the Smith-Magenis syndrome is associated with a highly recognizable phenotype. Because evidence of the abnormal cell line may be minimal or absent in peripheral blood, fibroblast studies are indicated for patients in whom mosaicism for deletion 17p11.2 is suspected clinically.

Adolescent↗
PubMed1993

Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.

Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.

Abnormalities, Multiple↗
PubMed1993

Carpal and tarsal osteolysis: an MRI, angiographic and histopathologic study.

The case of a 13-year-old girl with striking carpal and tarsal osteolysis (sporadic occurrence) is reported. MRI confirmed the total absence of carpal bones and medial tarsal bones. Dense fibrocollagenous tissue replaced the spaces left by the resorbed bones. Arteriography showed occlusion of the radial artery at the level of the physis of the distal radius with increased tortuosity of the ulnar artery. There was no major vascular occlusion in the foot except for some indistinct and blurred tarsal branches of the anterior tibial artery.

Adolescent↗
PubMed1993

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. The patients had varying degrees of typical clinical findings associated with the 18q- syndrome. Cytogenetic analysis revealed deletions from 18q21.3 or 18q22.2 to qter. Somatic cell hybrids derived from the patients were molecularly characterized using ordered groups of probes isolated from a chromosome 18-specific library. In general, the size of the deletion could be correlated with the severity of the phenotype. Based on the clinical pictures of these seven patients, a preliminary phenotypic map for the clinical features associated with deletions of the distal portion of the long arm has been generated. Furthermore, genes previously localized to 18q21 were mapped relative to the chromosome breakpoints present in these patients.

Abnormalities, Multiple↗
PubMed1993

Inflammatory arthropathies in children with chromosomal abnormalities.

There are few observations of inflammatory synovitis in association with specific chromosomal abnormalities in children or adults. We review the genetic and rheumatic disease literature and describe the clinical, radiologic and pathologic features of a 14-year-old boy with trisomy 5q, terminal 2p deletion, developmental delay, and a 5-year course of a polyarticular, symmetrical arthropathy similar to juvenile rheumatoid arthritis. He was treated with multiple nonsteroidal antiinflammatory drugs, intramuscular gold, and oral methotrexate, but developed iridocyclitis, joint space narrowing with erosions, and multiple flexion contractures; disease progression slowed after addition of chlorambucil. The frequency and manner of association of genetic disorders with inflammatory arthropathies is presently unknown. Additionally, children with 2 major disabilities often require aggressive medical intervention to maximize their potential for adult independence.

Adolescent↗
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↗