[Potter's sequence. Phenotype, pathogenesis, etiology and hereditary aspects].
Potter's sequence, commonly known as Potter's syndrome, may be due to very different pathogenetic and etiological conditions. The phenotype and the pathogenesis are described. The heredity differs, depending on the etiology. The result of an ultrasound investigation of a family shows the probably most common mode of heredity: autosomally dominant with lowered penetration and variable expressivity. When genetic counselling is required, meticulous examination of the foetus and the family is recommended in order to obtain a basis for counselling of the family. Future pregnancies in the parents and relevant relatives should be followed by ultrasound examinations. With ultrasound, Potter's sequence can be demonstrated about the 16th week of pregnancy so that termination of pregnancy may be considered.
Hjort
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Arhus Kommunehospital, paediatrisk afdeling A.
Larsen
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Nathan
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal
Potter-sekvens. Faenotype, patogenese, aetiologi og arvelige aspekter.