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Biomedical subjects

J M Opitz

Publications and source records attributed to J M Opitz.

At least 19 recordsLinked to original sources
PubMed1979

The Johanson-Blizzard syndrome: case report and autopsy findings.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

Abnormalities, Multiple↗
PubMed1979

The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.

We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.

Adolescent↗
PubMed1979

Brief historical note: the concept of "gonadal dysgenesis".

The history of gonadal by dysgenesis cautions against overinterpretation of data: The streak gonads are neither the result of dysgenesis nor of embryonic origin but represent late fetal/neonatal degeneration; the X-chromatin-negative character of the buccal smear and the frequency of color vision defects did not indicate male sex in the Ullrich-Turner syndrome but rather an XO constitution; severity of dysgenesis did not correlate with risk of gonadal neoplasia but with genotype; the gonadal lesion in the Ullrich-Turner syndrome was not due to a pituitary defect but a primary ovarian lesion; patients with the Noonan syndrome do not have the Turner phenotype. The concept of gonadal dysgenesis, introduced to Kermauner in 1912, has outlived its usefulness. Improved methods of phenotype analysis, family studies, and endocrine and cytogenetic methods have showen it to be causally and pathogenetically heterogeneous and have contributed to a better identification and delineation of the several different genetic entities which it formerly comprised.

Europe↗
PubMed1979

Teratomas in children and young adults.

A review of all teratomas seen at the University of Wisconsin Hospital between 1965 and 1977 revealed that sacrococcygeal and presacral teratomas were most common. In these cases survival was best in infants less than one year old, with the exception of two cases of malignant medulloepithelioma. Testicular teratomas were predominant in the young adult male, and survival was poor. Pathology and treatment of teratomas are discussed, with an accompanying discussion of congenital anomalies associated with teratomas.

Adolescent↗
PubMed1979

Syndrome delineation. 1. Malformations and dysplasias.

A practical classification of genetic disorders and birth defects divides them into five categories: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. The first two categories are discussed here. The last three will be discussed next month in part 2.

Abnormalities, Drug-Induced↗
PubMed1979

Syndrome delineation. 2. Inborn errors of metabolism, deformities, and variant familial developmental patterns.

Classification of genetic disorders and birth defects into the following five categories aids in efficient patient evaluation, prognostic counseling, and therapy: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. These categories highlight different pathogenetic aspects of disease processes. Mixed disorders with manifestations from the different categories may be of special significance.

Abnormalities, Multiple↗
PubMed1979

Genetic causes and workup of male and female infertility. 1. Prenatal reproductive loss.

Studies show that the greatest check on human reproduction occurs prenatally in apparently fertile couples. Most chromosomally abnormal embryos are aborted spontaneously. This paper, to be published in three parts, reviews the major known anatomic, functional, genetic, and environmental causes of infertility and reproductive wastage. The second and third parts, to appear in succeeding issues, are concerned with chromosome abnormalities and congenital malformations in the period from birth to adult life and with the diagnostic workup of infertile men and women.

Abortion, Habitual↗
PubMed1979

Genetic causes and workup of male and female infertility. 2. Abnormalities presenting between birth and adult life.

At birth some 6/1,000 persons have chromosome abnormalities; in about 60% of cases these abnormalities cause death or infertility, and in one third fertility is reduced. Some 1.7% of persons (3.4% of couples) with recurrent spontaneous abortion, infertility, or both have a chromosome abnormality. Chromosome abnormalities are far more common in men than in women with infertility; 15% to 20% of men with azoospermia have the Klinefelter syndrome. Meiotic defects explain 20% of male infertility in patients with apparently normal somatic chromosomes. Congenital malformations of the genitalia are more common in males than in females; about 0.82% of liveborn males have hypospadias. Almost one sixth of women with primary amenorrhea have some form of müllerian atresia, usually with associated renal anomalies.

Chromosome Aberrations↗
PubMed1979

Genetic causes and workup of male and female infertility. 3. Details of the clinical evaluation.

In the evaluation of male and female infertility the history, family history, physical examination, and endocrine and gonadal functional evaluations are the most informative measures. The cause of the infertility is never found in some 17.5% of couples and in almost one fourth of males. In over one third of cases male infertility is attributed to varicocele. In 40% of women infertility can be attributed to ovulatory or cervical factors, uterotubal disease, endometriosis and other pelvic disease, or a combination of these factors. For couples with primary infertility the fertility rate after seven years is only 36%; in such cases the neonatal death rate, frequency of low birth weight, and incidence of major malformations are several time greater than in the normal population.

Adult↗
PubMed1979

Diagnostic/genetic studies in mental retardation.

Excluding environmental, psychotic, and unclassified categories, a total of 1,231 cases of severe mental retardation were found in the Central Wisconsin Center study. Some 45% of cases were estimated to be genetically caused or predisposed, but in only 15% was the risk of recurrence considered high. Nevertheless, I feel strongly that parents of all retarded patients deserve etiologic/diagnostic counseling.

Congenital Abnormalities↗
PubMed1978

Two peculiar types of enchondromatosis.

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

Bone and Bones↗
PubMed1978

An unusual dysplasia-malformation-cancer syndrome in two patients.

We report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb-bud differentiation. Malignant degeneration at 5--7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2-"mutational" causal model. This is an apparently previously undescribed formal genesis syndrome.

Female↗