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Pseudo‐achondrogenesis with fractures
Author(s) -
Harris R.,
Patton J. T.,
Barson A. J.
Publication year - 1972
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.1399-0004.1972.tb01477.x
Subject(s) - dwarfism , achondroplasia , medicine , psychology , pediatrics , biology , genetics , gene
Two siblings are described who had some features characteristic of thanatophoric dwarfism and others characteristic of achondrogenesis. Pathologic fractures are not usually associated with these two forms of lethal short limbed dwarfism but were found in both infants. It is possible that the siblings reported here represent a new nosological entity.