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Biomedical subjects

R B Lowry

Publications and source records attributed to R B Lowry.

At least 73 records · Page 4Linked to original sources
PubMed1981

Chorioretinopathy and pituitary dysfunction. The CPD syndrome.

Four reports of a rare syndrome characterized by severe, early-onset chorioretinopathy, trichosis, and evidence of pituitary dysfunction are reviewed. Recently obtained follow-up information about these four patients is presented. A new example of this disease, the fifth case to be reported, to our knowledge, is described.

Adolescent↗
PubMed1980

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

We report two sibs with the Smith-Lemli-Opitz (RSH) syndrome and intelligence in the borderline normal range. The proposita has all the features of the syndrome; however, her brother shows fewer signs, indicating that considerable variability of expression may exist for this autosomal recessive trait. Nearly all previous cases had severe to profound mental retardation. The incidence of the syndrome in British Columbia is approximately 1/40,000 live births, giving a heterozygote frequency of about 1/100.

Abnormalities, Multiple↗
PubMed1980

X-linked mental retardation with macro-orchidism and marker-X chromosomes.

The family of 2 men with X-linked mental retardation was investigated for the presence of the marker-X chromosome and macro-orchidism. Lymphocyte cultures were set up in media F-10 and 199. Chromosomes were G-band-stained and slides coded for blind analysis. Marker-X chromosomes and autosomal gaps were seen only in cultures prepared with medium 199. Autosomal gaps were seen in all family members and controls. The marker-X chromosome was present inaffected male (3% and 15.5%) and female family members (0.5%-6.5%) but not in controls or a normal male family member. Bilateral macro-orchidism was present in 1 affected male and unilateral macro-orchidism in the other. Both had normal penile measurement. The replication pattern of the marker-X chromosome was studied in 1 woman by BrdU labelling. BrdU decreases the frequency of marker-X expression. As the marker-X chromosome was the late-replicating X in 9/20 cells, it appears that there is no preferential inactivation of the marker-X in this woman.

Chromosomes, Human↗
PubMed1980

Tertiary trisomy (22q11q),47,+der(22),t(11;22).

We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3 : 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with "partial trisomy 11q" and "trisomy 22" syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.

Adolescent↗
PubMed1979

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) type IV is a clinically and genetically heterogeneous disorder characterized by thin skin, prominent venous vascular markings, markedly increased bruising, and an increased likelihood of large bowel and large artery rupture. We studied two type IV EDS patients. Both have decreased amounts of type IIII collagen in skin, but ultrastructural examination of dermis showed massive dilation of rough endoplasmic reticulum in dermal fibroblasts in one, but not the other. Both had a major population of collagen fibrils of small diameter. Although previous studies suggested absent synthesis of type III collagen as the hallmark of one type of EDS IV, several abnormalities in metabolism of that type of collagen may be responsible for the phenotype in these disorders. Such disorders are likely to provide better understanding of the function of specific collagens in tissues.

Adult↗
PubMed1979

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.

Abnormalities, Multiple↗
PubMed1979

Down's syndrome and maternal age in British Columbia, 1972--75.

The occurrence of Down's syndrome in British Columbia during the period 1972-75 is analyzed with respect to maternal age distribution. This period is compared with previously studied periods. No marked trends are evident in the various age group-specific rates studied. The significance of these findings is discussed in connection with a possible role of environmental nutagens in induction of Down's syndrome and the maternal age effect.

Adult↗
PubMed1977

Poland syndrome in British Columbia: incidence and reproductive experience of affected persons.

Patients with Poland syndrome were ascertained through the British Columbia Health Surveillance Registry, through hospital records, and through practicing plastic and orthopedic surgeons. Of 44 patients who were ascertained, 28 had family histories taken and were examined. Physical findings were: absence of the sternal head of the pectoralis major in all patients, symbrachydactyly in most patients, and infrequent other associations such as ipsilateral undescended testis, Möbius syndrome, clubfoot, and submucous cleft palate. Family histories were "negative" in all cases. The 8 affected adults had 24 reportedly normal children. Mean paternal age was significantly higher than the paternal age in the population. The incidence was 1/32,000 livebirths in British Columbia. It was concluded that in the British Columbia population the syndrome is usually a sporadic event.

Adult↗
PubMed1977

The Klippel-Feil anomalad as part of the fetal alcohol syndrome.

A brother and sister and described with malformations and handicaps consistent with both the Klippel-Feil Anomalad and the Fetal Alcohol Syndrome. The mother was known to be a chronic alcholic throughout both pregnancies. It is suggested that these anomalies are not purely fortuitous but rather that maternal alcoholism may cause errors in cervical vertebrae segmentation.

Adult↗
PubMed1977

Incidence rates for cleft lip and palate in British Columbia 1952-71 for North American Indian, Japanese, Chinese and total populations: secular trends over twenty years.

The incidence of cleft lip and/or cleft palate was examined for the 1952-71 period for the Province of British Columbia. Although there were some fluctuations, some of which were significant, there was no general trend which indicated that the rates were either increasing or decreasing. These rates are important for a background calculation when investigating new invironment teratogens. The total rate of 1.97 per 1,000 live birth is comparable with other Caucasian populations where there is good ascertainment and adequate follow-up period. This study also confirmed the previously reported high rate for North American Indians in British Columbia (3.74 per 1,000 live births) and established rates for the Japanese (3.36 per 1,000 live births) and Chinese (1.76 per 1,000 live births) of British Columbia. Since these three sub-populations are relatively small in relation to the total population, they do not influence the overall total rate to any great extent.

British Columbia↗
PubMed1977

Comparison of existing classifications for coding congenital malformation and genetic syndromes.

One thousand consecutive new registrations at the B.C. Health Surveillance Registry were coded by means of ICD (8th Edition), Cardiff Classification, and SNOMED systems. The Cardiff system uses the basic ICD number with important fifth and sixth digit modifiers, which improve discrimination. In certain conditions, however, the basic three-digit number differs from that in ICD and hence comparability is not always possible. The SNOMED system has six subcategories, followed by a five-digit code. These subcategories deal with Function, Disease, Topography, Etiology, Morphology, and Procedure. For our particular needs, the SNOMED system was not entirely satisfactory as it has not expanded sufficiently for many of the malformation syndromes. For hospital use, though, the SNOMED system may have numerous advantages over other existing systems.

Congenital Abnormalities↗
PubMed1977

Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis.

A patient is reported with a syndrome of mental retardation, congenital microcephaly, cleft palate, congenital heart defect, eventration of the diaphragm, optic atrophy, and glaucoma. Her facies was Crouzon-like and craniosynostosis, although not present at 10 months, was demonstrated postmortem at 29 months. It is suggested that she is an example of a true multiple congenital anomaly-mental retardation syndrome rather than an example of Crouzon syndrome with additional anomalies.

Abnormalities, Multiple↗
PubMed1977

Syndrome of myopathy, short stature, seizures, retinitis pigmentosa, and cleft lip.

A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar cases have been encountered in the literature.

Body Height↗