Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome
dc.contributor.author | Jelsema, Russel D. | en_US |
dc.contributor.author | Isada, Nelson B. | en_US |
dc.contributor.author | Kazzi, Nadya J. | en_US |
dc.contributor.author | Sargent, Kate | en_US |
dc.contributor.author | Harrison, Michael R. | en_US |
dc.contributor.author | Johnson, Mark P. | en_US |
dc.contributor.author | Evans, Mark I. | en_US |
dc.date.accessioned | 2006-04-28T16:48:48Z | |
dc.date.available | 2006-04-28T16:48:48Z | |
dc.date.issued | 1993-11-15 | en_US |
dc.identifier.citation | Jelsema, Russel D.; Isada, Nelson B.; Kazzi, Nadya J.; Sargent, Kate; Harrison, Michael R.; Johnson, Mark P.; Evans, Mark I. (1993)."Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome." American Journal of Medical Genetics 47(7): 1022-1023. <http://hdl.handle.net/2027.42/38260> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38260 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8291516&dopt=citation | en_US |
dc.description.abstract | Brachmann-de Lange syndrome (BDLS) is a variable multiple congenital anomaly syndrome that occasionally includes congenital diaphragmatic hernia (CDH). CDH per se is commonly diagnosed antenatally and has been corrected with increasing success in utero and by neonatal repair with extracorporeal membrane oxygenation (ECMO). In utero repair requires normal karyotype as well as the absence of other lethal anomalies. Postnatal repair in combination with ECMO has resulted in improved neonatal outcome and has been recommended in all cases not having in utero repair. We describe a fetus diagnosed with a diaphragmatic hernia at 18 weeks of gestation in a woman whose only other pregnancy has been a 16 week abortus diagnosed with Fryns syndrome (FS). FS is a lethal, variable congenital anomaly syndrome that includes CDH, which is thought to contribute to the lethality of the syndrome. In utero repair was considered, but rejected because of the position of the liver and suspected FS. The Patients elected to carry the pregnancy to term. Postnatal repair with ECMO was considered; however, the infant died at several hours of age because of severe pulmonary hypoplasia, being considered ineligible for ECMO. The diagnosis of BDLS was made at autopsy and suggests that the first case may, in fact, have been BDLS. In spite of recent success in the repair of CDH both in et ex utero, CDH in association with BDLS is likely lethal, and women with fetuses diagnosed antenatally with CDH and BDLS should be counseled as such. © 1993 Wiley-Liss, Inc. | en_US |
dc.format.extent | 233363 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationother | Center for Fetal Diagnosis and Therapy, Departments of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan | en_US |
dc.contributor.affiliationother | Center for Fetal Diagnosis and Therapy, Departments of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan ; Center for Fetal Diagnosis and Therapy, Departments of Molecular Biology and Genetics, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan | en_US |
dc.contributor.affiliationother | Center for Fetal Diagnosis and Therapy, Departments of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan | en_US |
dc.contributor.affiliationother | Department of Pediatric Surgery, University of California, San Francisco, California | en_US |
dc.contributor.affiliationother | Center for Fetal Diagnosis and Therapy, Departments of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan ; Center for Fetal Diagnosis and Therapy, Departments of Molecular Biology and Genetics, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan | en_US |
dc.contributor.affiliationother | Center for Fetal Diagnosis and Therapy, Departments of Obstetrics/Gynecology, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan ; Center for Fetal Diagnosis and Therapy, Departments of Molecular Biology and Genetics, Hutzel Hospital/Wayne State University and Children's Hospital of Michigan Detroit, Michigan ; Division of Reproductive Genetics, Hutzel Hospital/Wayne State University, 4707 St. Antoine Boulevard, Detroit, MI 48201 | en_US |
dc.identifier.pmid | 8291516 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38260/1/1320470717_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320470717 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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