Biomedical subjects

A Gurski

Publications and source records attributed to A Gurski.

4 recordsLinked to original sources

PubMed1993

[Hirschsprung disease. Discussion of a disease picture also relevant to neonatology].

The clinical disease pattern of an "acute abdomen" is by no means rare in newborn and very young infants and always signals an emergency situation. Besides inflammatory causes, congenital anomalies are among the most prominent reasons responsible for this condition. The example of 3 own patients serves to illustrate the disease pattern of Hirschsprung's disease, which is discussed with special reference to neonatology.

Abdomen, Acute↗

PubMed1992

[Hypohidrotic ectodermal dysplasia as the cause of recurrent hyperthermia in a young infant].

Fever--the most frequent symptom of diseases in children--points diagnostically to an infection. We report on a child who presented with recurrent high fever of unknown origin. Infectious diseases could be excluded. During a general medical checkup the results of repeated pilocarpine iontophoresis attracted attention by the minimal secretion of sweat. The diagnosis of hypohydrotic ectodermal dysplasia could be confirmed by dermal biopsy since all integumentary appendages were missing. Only 300 cases of this rare hereditary dysplasia can be found in the literature.

Biopsy↗

PubMed1992

[Contribution to hypochondrogenesis].

Hypochondrogenesis is one of non-viable skeleton dysplasiae which recently has been delimited as an entity of its own and with its classification between spondylo-epiphysary dysplasia and achondrogenesis. An accurate differential diagnosis requires specialised histo-pathological investigations of the patient's cartilage tissue. Five new observations compared to a classical case of dysplasia spondylo-epiphysaria congenita are added to the references made in literature.

Achondroplasia↗

PubMed1982

[Short rib-polydactyly syndrome of the Saldino-Noonan type in 2 siblings].

Two stillborn female siblings with short rib-polydactyly syndrome type I (Saldino-Noonan) are described. Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular in the gastro-intestinal tract and in the urogenital system. The clinical, radiological and anatomo-pathological differences between the four presently known types of the SRP syndrome are described. The importance of postmortem X-ray diagnosis and of genetic counseling (autosomal recessive transmission) is emphasized.

Abnormalities, Multiple↗