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Roberts syndrome and SC phocomelia. A single genetic entity
Author(s) -
Römke Christiane,
FrosterIskenius Ursula,
Heyne Klaus,
Höhn Wolfram,
Hof Marita,
Grzetszczyk Grzegorz,
Rauskolb Rüdiger,
Rehder Helga,
Schwinger Eberhard
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02790.x
Subject(s) - ectromelia , genetics , medicine , pediatrics , biology , virus
A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.