CareLit · DOI-Nachweis · Ultraschall in der Medizin - European Journal of Ultrasound
First description of a case of classic maternal phenylketonuria and sonographic signs of fetal trisomy 21
DOI 10.1055/s-2008-1080844
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Autor:innenH Lehnen, M Vinke, G Schwennicke, G Schwennicke, U Pascheberg
ZeitschriftUltraschall in der Medizin - European Journal of Ultrasound
Ausgabe05/2008
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Summary: Phenylketonuria is the best known pathology of amino acid metabolism. Presented here is the case of a 23-year old prima-gravida with phenylketonuria since birth. After delivery, her child was diagnosed with free trisomy 21. Abnormal sonographic signs such as bilateral hydrothorax, polyhydramnion, and short femura under the 10th percentile could be demonstrated in the ultrasound scan at 33 weeks gestation. R…
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Zitierempfehlung
H Lehnen, M Vinke, G Schwennicke, G Schwennicke, U Pascheberg (2008) First description of a case of classic maternal phenylketonuria and sonographic signs of fetal trisomy 21. Ultraschall in der Medizin - European Journal of Ultrasound (05). https://doi.org/10.1055/s-2008-1080844
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