caa a22 4500 378851128 CHVBK 20180305123323.0 cr unu---uuuuu 161128e20031120xx s 000 0 eng 10.1515/JPM.2003.083 doi (NATIONALLICENCE)gruyter-10.1515/JPM.2003.083 Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis [Elektronische Daten] [Y. Cheng, M. S. Verp, T. Knutel, J. U. Hibbard] Background: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date. Case: This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with β-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies. Conclusion: The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed. Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Human reproduction, growth & development nationallicence Gynaecology & obstetrics nationallicence Paediatric medicine nationallicence Cheng Y. aut Verp M. S. aut Knutel T. aut Hibbard J. U. aut Journal of Perinatal Medicine Walter de Gruyter 31/6(2003-11-20), 535-537 0300-5577 31:6<535 2003 31 jpme https://doi.org/10.1515/JPM.2003.083 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/JPM.2003.083 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cheng Y. aut NATIONALLICENCE 700 1- Verp M. S. aut NATIONALLICENCE 700 1- Knutel T. aut NATIONALLICENCE 700 1- Hibbard J. U. aut NATIONALLICENCE 773 0- Journal of Perinatal Medicine Walter de Gruyter 31/6(2003-11-20), 535-537 0300-5577 31:6<535 2003 31 jpme CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter