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Biomedical subjects

W Fuhrmann

Publications and source records attributed to W Fuhrmann.

At least 55 records · Page 3Linked to original sources
PubMed1979

[Fetoscopy--today].

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Abortion, Spontaneous↗
PubMed1978

[Hypertelorism].

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Craniofacial Dysostosis↗
PubMed1978

Familial basal cell nevus syndrome.

The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

Adult↗
PubMed1978

[Skin defects in the newborn or fetus as questionable sequelae of amniocentesis in early pregnancy (author's transl)].

In three of 111 infants born after amniocentesis and in one of 5 fetuses aborted after amniocentesis, which could be examined, small skin lesions or scars were observed. Interpretation as sequelae of needle puncture appears possible, but questionable, particularly since similar lesions were observed in infants born after uncomplicated pregnancy without amniocentesis. The differential diagnosis of a focal dermal hypoplasia or aplasia may be considered, which may be hereditary.

Abortion, Spontaneous↗
PubMed1978

[Fetoscopy (author's transl)].

It is the aim of fetoscopy to recognise or exclude malformations which are visible in the fetal stage and which are not associated with chromosomal damage. The requisite endoscope can be inserted practically without any problems into the amniotic cavity under local anaesthesia and in the manner of an "extended amniocentesis". If pregnancy is continued, the risk involed in fetoscopy must be assessed as similarly low as that of simple aminocentesis, as the clinical experience collected so far has shown. The clinical use of fetoscopy requires close co-operation with the geneticist and the parents concerned. The decision that fetoscopy is indicated lies mainly with the geneticist on account of the required expert genetic knowledge. Fetoscopy appears justified if there is an increased risk of malformation of the fetus which is manifest in the foetal stage and which is sufficiently serious to initiate therapeutic abortion if necessary, and, furthermore, if the risk involved in fetoscopy is in reasonable proportion to the risk of teh malformation. Over and above this, fetoscopy can also be justified if it is necessary to obtain fetal blood for examination. Satisfactory technical and endoscopic experience is the most important prerequisite for success and for reduced risk. Up to now, indication of fetoscopy was exclusively coupled to existing pregnancy and enhanced genetic risk. On the other hand, the question whether pregnancy should be permitted despite a known risk, simply because subsequent fetoscopy is envisaged, should be treated with reserve.

Abortion, Therapeutic↗
PubMed1975

[Human genetics. Clinical and preventive aspects from the viewpoint of obstetrics and gynecology].

Clinical genetics and genetic counselling can be applied effectively only, if close cooperation is secured between the clinical geneticist and the physician in the field. The limited capacity of all institutes of human genetics makes it mandatory that general practicioners and the various specialists preselect patients for special genetic work-up and counselling. Quite often it is their obligation also to secure and document findings, prerequisite for effective genetic counselling, which would be lost otherwise. Special points are discussed and illustrated with typical cases.

Achondroplasia↗