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Biomedical subjects

J B Moeschler

Publications and source records attributed to J B Moeschler.

28 records · Page 2Linked to original sources
PubMed1990

Autosomal dominant familial spastic paraplegia: report of a large New England family.

A large New England family with autosomal dominant familial spastic paraplegia is described. In a pedigree of 173 individuals, 71 affected individuals are identified. Seventeen cases examined by the authors are described with regard to the natural history of FSP in this family. A staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, FSP is found to have a homogeneous clinical course with nearly complete penetrance. Onset occurs at or before 3 years of age with involvement limited to the lower extremities. After the initial onset, no significant progression was noted. Early aggressive habilitative care may result in more functional ambulation.

Adolescent↗
PubMed1990

Autosomal dominant familial spastic paraplegia: description of a large New England family and a study of management.

A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.

Adolescent↗
PubMed1989

Acrocallosal syndrome: new findings.

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.

Abnormalities, Multiple↗
PubMed1989

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn.

Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/252 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full-term neonate.

Adult↗
PubMed1988

Rett syndrome: natural history and management.

The clinical findings of seven girls and one woman, 2 to 25 years of age, with Rett syndrome are presented. Previous diagnoses included Prader-Willi syndrome, Angleman syndrome, toxic reaction to pertussis vaccine, CNS dysgenesis, and encephalitis. Rett syndrome has a recognizable neurodevelopmental phenotype without a specific biologic marker, which makes the diagnosis difficult at times. Treatment is largely supportive, and an active parents' association has been helpful to many families.

Adult↗
PubMed1987

The Johanson-Blizzard syndrome: a second report of full autopsy findings.

We report on a second patient with Johanson-Blizzard syndrome with full autopsy. The findings are similar to those of the one other available case, but gross or fine CNS maldevelopment was not present; although small by weight, the brain showed no cytoarchitectural disturbance. Normal intellectual development does occur in this syndrome and may relate to the variable effects of the deleterious gene on the developing CNS.

Abnormalities, Multiple↗
PubMed1986

Cognitive functioning in the fragile-X syndrome: a study of intellectual, memory and communication skills.

There may be several cognitive features that characterize fragile-X syndrome in both males and females. Since this study is one of the few that examines noninstitutionalized individuals with the syndrome, future studies of affected individuals should continue to include formal assessment of their cognitive skills. Likewise, the examination in this study of one single family with fragile-X syndrome indicates that further evaluation of verbal, perceptual, memory, language and speech skills is necessary to determine the prevalence of the features described.

Adult↗
PubMed1985

Johanson-Blizzard syndrome with normal intelligence.

We report a brother and sister with apparent Johanson-Blizzard syndrome and normal intelligence. There is a wide range of intellectual abilities of persons with Johanson-Blizzard syndrome. No phenotypic predictors of ultimate intellectual function were found in the literature.

Abnormalities, Multiple↗