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Title: MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies
Authors: Witters, Ingrid ×
Devriendt, Koenraad
Spinnewijn, D
Moerman, Philippe
Van Assche, Frans Andre
Fryns, Jean-Pierre #
Issue Date: Jan-2002
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:107 issue:3 pages:233-6
Abstract: We report the second trimester prenatal diagnosis of severe symmetrical limb deficiencies with posterior fossa cyst and cardiac anomaly in a female fetus. Fetopathological examination revealed additional anomalies: renal-hepatic-pancreatic dysplasia, cleft palate, and Müllerian duct anomaly. The spectrum of congenital malformations in the present observation is difficult to classify into a single syndrome entity and presents an overlap with several syndromes: Roberts syndrome, Goldston syndrome, and renal-hepatic-pancreatic dysplasia.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Section Woman - Miscellaneous (-)
Clinical Genetics
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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