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Biomedical subjects

E Rupprecht

Publications and source records attributed to E Rupprecht.

At least 19 recordsLinked to original sources
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↗
PubMed1990

Spondylocostal dysostosis: dominant type.

We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.

Adult↗
PubMed1990

The craniodigital syndrome of Scott: report of a second family.

We report on a boy with a characteristic combination of facial anomalies, syndactylies of fingers and toes, and mental retardation. Scott et al. (Journal of Pediatrics 78:658-663, 1971) observed 3 brothers with almost identical manifestations. The mother of these patients had bilateral syndactyly of toes 2 and 3. This led the authors to suggest X-linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X-linked inheritance.

Face↗
PubMed1990

[The acrocallosal syndrome. Report of an additional case].

The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet. We report a patient with partial agenesis of the corpus callosum, dolichocephalus, broad and short nose, low-set and posteriorly rotated ears, pre- and postaxial polydactyly of feet, duplication with syndactyly of big toes, and postaxial hexadactyly of the left hand. Differential diagnosis and the genetic counseling are discussed.

Abnormalities, Multiple↗
PubMed1990

[Doppler echocardiographic diagnosis of pulmonary hypertension in children with mucoviscidosis].

Today Doppler echocardiography is a reliable noninvasive method in the diagnostic of pulmonary hypertension. We investigated 52 patients (age 1 to 19 years) with pulsed- or continuous-wave Doppler. Systolic pulmonary artery pressure (SPAP) was calculated about the equation of Akiba using acceleration time, corrected by heart rate. SPAP estimated in this way was less than 20 mmHg in 14% of the patients. 20-39 mmHg in 29%, 40-59 mmHg in 31% and about 60 mmHg in 26%. No correlation was found between age and SPAP and only low correlation between score of Shwachman (r = 0.37) or score of Norman-Crispin and SPAP. Between body fat, calculated from the thickness of skin folds, and SPAP was found a good correlation (r = -0.73, p = 0.01).

Adolescent↗
PubMed1990

[BCG osteitis. A case report].

Report of a 8 month old girl with a BCG-Ostitis in the head of the left humerus. The diagnosis was ascertained by typical radiological, histological and immun-histochemical changes. Tuberculostatic therapy resulted in healing. The value of the BCG-vaccination remains beyond all question.

Antitubercular Agents↗
PubMed1990

[Vein of Galen malformation in a newborn infant with clinical symptoms of a cardiologic emergency].

We report on the management of one term newborn infant with a malformation of the Vena Galeni. The baby suffered from cyanosis and intractable congestive heart failure without evidence of congenital heart malformation at his second day of life. The diagnosis was established by two-dimensional sonography and Doppler examination. However, we thought it necessary additionally to perform an angiography of the intracerebral vessels before surgical intervention. We conclude that a real time two-dimensional imaging system and a range-gated pulsed Doppler velocimeter should be available in newborn intensive care units. Otherwise neonatologists are forced to transport these infants to pediatric heart centers because of inability to detect such an extracardiac origin of heart and circulatory failure.

Cerebral Veins↗
PubMed1989

[Pseudohypoparathyroidism--a case report].

The clinical picture of pseudohypoparathyroidism described by Albright and co-workers represents a morphological, functional and laboratory-chemical combination of symptoms which in the classical case is characterized by proportionate nanism, round face, oligophrenia and neuromuscular overexcitability, radiological changes as well as hypocalcaemia and hyperphosphataemia in increased parathormone. On the basis of casuistics typical findings are demonstrated and discussed with the data in literature.

Adult↗
PubMed1989

[Proteus syndrome. A contribution to the further differential diagnosis of congenital local gigantism].

Four sporadically occurring characteristic cases of the Proteus syndrome are described. All patients show the main features of the disease, consisting of hemihypertrophy, partial gigantism of hands and/or feet with soft-tissue hypertrophy, plane naevi, subcutaneous tumours, and cranial anomalies. There is a remarkable polymorphism of the symptoms. Anamnestic, clinical and paraclinical findings are shown in tables. Based on a survey of the literature, the main aspects of genetics and of differential diagnosis are discussed.

Abnormalities, Multiple↗
PubMed1988

[Children of parents irradiated prior to conception--a longitudinal study (results, 1986)].

The results of a longterm study on 55 children are presented whose parents were treated by radiotherapy. Five or ten years after a first examination, these children were submitted to a check-up investigation of their physical and intellectual development. The group of twenty irradiated fathers received an average dose to the gonads of 0.55 Gy (0.01 to 6.4 Gy), the group of twenty irradiated mothers 0.72 Gy (0.01 to 8.0 Gy). In all parents the most frequent finding was Hodgkin's disease, which was diagnosed as a neoplasm in 23 cases. Chemotherapy was applied in two out of 40 patients. The proof of paternity was made with a 86% accuracy for ten out of twenty fathers by determination of HLA types. A conception was demonstrated beyond all doubt after a dose to the testicles of 1.2 Gy in the irradiated fathers and after a dose to the ovaries of 3.0 Gy in the irradiated mothers. The offspring of the F1 generation showed no modification in the sex ratio. In the primary examination, a rate of 5.5% of severe malformations was found (trisomy E, bradyacousia of the inner ear, cleft hands and feet). 24% of the children had malformations which needed a treatment (hernias, torticollis, hip dysplasia). 18 out of 55 children (33%) presented abnormalities in the widest sense of the word. Three children (5.5%) were premature infants, and there is a general tendency towards shortened pregnancy (-3.6 days). Hernias (7/55) are a frequent finding. In children of both sexes, carporadiography shows a delayed development which is not compensated in the check-up examinations at five or ten years, but does not cause an underdevelopment in body height as compared to great normal collectives. The results suggest a slightly increased malformation rate among children whose parents were treated by radiotherapy. Above all the connective and supporting tissue seems involved. Some proposals are made how to give a radiogenetic advice to tumor patients who want to have children.

Abnormalities, Radiation-Induced↗
PubMed1985

Chest radiographs of near-drowned children.

From 1972 through 1983 there were 10 near-drowned children (7 boys and 3 girls) aged 1 to 4 years, treated as inpatients at the Children's Hospital of the Medical Academy Dresden. Three of them showed a severe aspiration pneumonia which in one case was complicated by bilateral pneumothoraces. In a further five children there were radiological signs of pulmonary oedema. Only in two children were the X-ray pictures of the chest normal.

Child, Preschool↗