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Title: The Roberts tetraphocomelia syndrome: identical limb defects in two siblings
Authors: Fryns, Jean-Pierre ×
Kleczkowska, A
Moerman, Philippe
van den Berghe, K
Van den Berghe, Herman #
Issue Date: Jan-1987
Publisher: Elsevier Science
Series Title: Annales de Génétique vol:30 issue:4 pages:243-5
Abstract: In this report we describe two siblings; a female newborn who died shortly after birth, and a prenatally diagnosed female fetus with an identical type of severe, symmetrical tetraphocomelia. Internal malformation, cleft lip/cleft palate and ocular anomalies were absent in both. Premature centromere separation was not observed. On the basis of these findings the nosology of the tetraphocomelia syndromes (Roberts syndrome and the SC phocomelia/pseudothalidomide syndrome) is briefly discussed.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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