Ferredoxin mediated hydrogen formation from NADPH in a cell-free system of Clostridium kluyveri.
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Biomedical subjects
Publications and source records attributed to E Rupprecht.
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Report of a case of dysplasia epiphysealis hemimelica with congenital partial hemihypertrophy as main symptom. This diagnosis could be ascertained in a boy at the age of four years by typical rentgenographic findings although a clinical suspicion existed earlier. In all cases of hemihypertrophy with impaired mobility of the great joints this disease should be considered.
Since the first description of the acrocephalosyndactyly syndrome, type Apert, in 1906, numerous entities belonging to this group of disorders have been defined. Recently several families with various types of craniosynostosis have been published. Moreover, most of the types of acrocephalosyndactylia have been observed with polydactyly, rendering exact diagnosis more and more difficult. Hence it seems necessary to revise the classification of these disorders. The paper gives a survey of the craniosynostosis syndromes and a classification for genetic counseling is proposed.
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