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Biomedical subjects

J Herrmann

Publications and source records attributed to J Herrmann.

At least 55 records · Page 3Linked to original sources
PubMed1977

The SC phocomelia and the Roberts syndrome: nosologic aspects.

We reviewed the SC phocomelia syndrome (SCS) and the Roberts syndrome (RS) to demonstrate techniques of nosologic analysis based primarily on the phenotype analysis. We considered type, localization, severity, and variability of the manifestations. In this patient sample these techniques are not sensitive enough to rule out any one of the three most likely etiologic hypotheses, namely whether the SCS and the RS are due to different recessive genes, different alleles, or the same recessive gene. However, this study does suggest certain implications for each of these possibilities.

Abnormalities, Multiple↗
PubMed1977

Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome. Case report and review.

We describe a boy with the hypertelorism-hypospadias (BBB) syndrome. His mother and his maternal grandmother showed minor manifestations suggestive of the syndrome. The BBB syndrome is a syndrome of multiple congenital anomalies with mental retardation due a segregating mendelian mutation, either X-linked or autosomal. This paper reviews the literature on the subject and emphasizes the problem of identifying females at high risk of transmitting the condition.

Abnormalities, Multiple↗
PubMed1977

Clinical aspects of gene expression.

1. Expression and nonexpressin of genetic information may be viewed in relationship to the biologic structures that express or do not express the genetic information. We suggest defining expressivity as the quality of expression of genetic information in cells, tissues, organs, etc, of individuals, defining penetrance as the quality of expression of genetic information in an individual organism as a whole, and using a new term, phenotrance, to describe the quality of expression of genetic information in generations. 2. Decreased phenotrance may be indicated by "incompletely dominant" inheritance, by conditions for which "dominant" as well as "recessive" inheritance has been reported, or by disorders with sporadic occurrence in most and familial occurrence in some instances. The human conditions with decreased phenotrance that we have studied indicate that there are different types of decreased phenotrance. 3. The mechanisms for decreased phenotrance in man may correspond to certain genetic mechanisms that have been studied in lower organisms, such as delayed mutation, replicating instabilities, controlling elements, extrachromosomal inheritance, and others.

Achondroplasia↗
PubMed1976

Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister.

We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an absent ulna and hypoplasia of the ipsilateral shoulder girdle.

Abnormalities, Multiple↗
PubMed1976

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.

Abnormalities, Multiple↗
PubMed1976

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.

Adult↗
PubMed1976

[False radioimmuno-assay of thyroxine and triiodothyronine in the presence of hormone-binding autoantibodies in serum (author's transl)].

Radioimmunoassay of thyroxine and triiodothyronine in a 14-year-old girl with primary hypothyroidism and nodular goitre as a result of Hashimoto's thyroiditis gave falsely low values due to the presence of hormone-binding antibodies. Such antibodies occur in Hashimoto's thyroiditis and thyroid carcinoma. Their presence requires special methods for determining these hormones.

Adolescent↗