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Biomedical subjects

B Leiber

Publications and source records attributed to B Leiber.

At least 19 recordsLinked to original sources
PubMed1979

[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)].

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.

Abnormalities, Multiple↗
PubMed1977

[Kniest's syndrome (author's transl)].

The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.

Adult↗
PubMed1976

[Clinical aspects of pathogenesis of alcohol embryopathy (author's transl)].

68 cases of alcohol embryopathy are reported. The main symptoms are intrauterine and postnatal growth retardation (91%), microcephaly (87 per cent), psychomotor and mental retardation (84 per cent) and a typical craniofacial dysmorphism. Other malformations are frequently found such as cardiac defects (31 per cent), anomalies of joints (23 per cent) and genitalia (50 per cent). There is a marked variation in the intensity of the malformations. Taking into account the extent of the craniofacial dysmorphism and the cerebral damage, a classification into three types (I-111) of alcohol embryopathy is proposed. That ethanol has a teratogenic effect seems to be confirmed. The mother's clinical history suggests that the quantity of alcohol consumed has no marked influence on birth weight, length of gestation and severity of the symptoms. Possibly a defective ethanol metabolism in the severely affected mothers may account for the dysplasias.

Abnormalities, Drug-Induced↗