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Biomedical subjects

R C Juberg

Publications and source records attributed to R C Juberg.

At least 37 records · Page 2Linked to original sources
PubMed1978

Fetal and maternal indications for considering abortion.

Medical indications for abortion rest on estimating the risk of an abnormal outcome of pregnancy. Recent advances have greatly increased our ability to predict the outcome for both mother and child. Given the safety of amniocentesis and the many disorders now diagnosable prenatally, genetic counseling has evolved from a level of only making a statement of chance to that of knowing the karyotype and genotype of the fetus. Fetal indications for abortion include risk of abnormality from either genetic or environmental factors. Maternal indications include physical or mental disorders which may jeopardize the patient's health. The physician and the geneticist must recognize the pregnancy at risk and fully inform the couple early enough to permit investigation, diagnosis, and decision on termination.

Abortion, Eugenic↗
PubMed1976

Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents.

We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.

Adult↗
PubMed1976

Sex ratio in the progeny of mothers with toxemia of pregnancy.

Maternal-fetal incompatibility may be an essential component in the etiology of toxemia of pregnancy. A prior study found an abnormally high sex (male:female) ratio, suggestuve of Y-dependent histoincompatibility. We studied the records of 373 patients alleged to have some indication of toxemia among 3,246 births and applied standard criteria for classification. There were no significant differences for any group compared with the sexondary sex ratio expected of the population(94.6% Black).

Adult↗
PubMed1975

A new form of hereditary short limbed dwarfism with microcephalus.

Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the other of seizures and central nervous system infection at 5 months. At autopsy, each had a small brain, hydrocephalus, and bony anomaly of the cranium, the one of the posterior fossa and the other of the foramen magnum; in addition, one had absence of the corpus callosum. The long bones were considered atypical of chondrodystrophy. The combination of midly shortened bones of the extremities, moderately anomalous ribs, and slightly flattened vertebrae with microcrania does not resemble any of the previously recognized forms of short limbed dwarfism. We propose determination by a single, rare, autosomal recessive gene. The parents had greatly different ancestry and their apparent heterozygosity for such a gene made their mating particularly unusual.

Abnormalities, Multiple↗
PubMed1975

Normal values for intercanthal distances of 5- to 11-year-old American blacks.

From measurement of the distances between the medial canthi, lateral canthi, and the pupils of 580 black boys and 639 black girls, we present values for these dimensions for 5- to 11-year-old normal subjects. With use of the cranial circumference, we also give normal values for two clinically used indices, the canthal and the circumference-interorbital. Compared with previously published standards, the intercanthal and interpupillary values for black boys significantly exceed those of white boys with only three exceptions involving interpupillary distance, and the values for black girls exceed those of white girls with just two exceptions, one each of the lateral canthal and interpupillary distances. Thus, we suggest that the measurements of a patient be compared with normal standards specific for race as well as age and sex. In contrast, values for neither the canthal nor the circumference-interorbital index of the blacks differed from values available for whites. Consideration of the position of eyes is relevant to the diagnosis of a large number of syndromes.

Black People↗
PubMed1975

Familial occurrence of Wilms' tumor: nephroblastoma in one of monozygous twins and in another sibling.

We report the occurrence of pathologically documented Wilm's tumor in a 24-month-old male twin and just 9 months later in his 12-month-old male sibling. We considered the twins to be monozygotic because of their phenotypic similarities, the probability computed from analysis of blood groups, and the comparison of their dermatoglphics. There were no other persons in the kindred with either tumor or associated malformations, and the parents were not consanguineous. Because of the frequency of Wilm's tumor, the few instances of demonstrated occurrence in siblings seem insufficient to postulate monogenic determination. Concordance in monozygotic twins has simply not been proven. The monozygotic unaffected twin of our first patient has remained without evidence of tumor to 5 years, and, as long as he remains so, he appears to represent an exception to the hypothesis of the mutagenic origin of this childhood tumor.

Blood Group Antigens↗