Biomedical subjects

H Frisch

Publications and source records attributed to H Frisch.

At least 199 records · Page 11Linked to original sources

PubMed1976

[Modern aspects of thyrotoxicosis in childhood (author's transl)].

3 children aged 4, 7 and 12 years with severe thyrotoxicosis were observed. Though symptoms had existed for at least 6 months, the disease had not been diagnosed earlier; therefore clinical symptoms and diagnostic possibilities are discussed in detail. Carbimidazole was used for therapy because of the low incidence of side effects. Furthermore, an imidazole type drug allows to control underlying thyroid function during antithyroid drug therapy by measuring the 20 min. uptake (trapping). Results of long term observations are discussed.

Age Factors↗

PubMed1975

[Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)].

Sparse, slowly growing hair, a big pear-shaped nose and deformities of the fingers are the main characteristics of the tricho-rhino-phalangeal syndrome (TRP); dwarfism is a facultative sign. The cone shaped invagination of the epiphysis into the diaphysis of the fingers and toes causes clinodactyly and brachydactyly. The typical physiognomy of the TRP leads to the suspected diagnosis which may easily be confirmed by X-ray examination. In a 13-year-old girl the classical signs of a TRP were found; several members of the family demonstrated some features of the syndrome. Dermatoglyphic examinations were performed on 9 members of the family.

Abnormalities, Multiple↗

PubMed1975

[Dermatoglyphics and creases in a family with brachydactyly (type Drinkwater I) to the question of the relation between dematoglyphics and four-finger-crease (author's transl)].

Dermatoglyphics and creases of three persons (grandmother, mother, son) with brachydactyly (type Drinkwater I) were examined. The finger prints showed only arches and loops of very low quantitative value. On the palm the increased frequency of a high ending of line D, of thenar patterns as well as the general tendency to form an ulnar loop on the hypothenar region were striking. All the three persons had a classical transverse crease (four-finger-crease) on both hands. The relation between dermatoglyphics and transverse crease is discussed from the aspect of the etiology of the four-finger-crease.

Dermatoglyphics↗

PubMed1975

[Inherited brachydactyly (Drinkwater I, Bell's Al type)].

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Chromosomes↗

PubMed1975

[A case of X/X translocation: t(X;X) (q26;p11)].

An eight-year old girl showing a X/X-translocation (45,X/46,Xt(X;X)(q26;p11)) is presented. Besides short stature and congenital heart-anomaly no other phenotypical abnormalities were present. In all cells containing the abnormal X-chromosome, the latter was late labeling as shown by autoradiography and BrdU-labeling.

Adult↗

PubMed1974