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The genetic entity of hypochondroplasia
Author(s) -
Frydman M.,
Hertz M.,
Goodman R. M.
Publication year - 1974
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.1399-0004.1974.tb01686.x
Subject(s) - achondroplasia , medicine , genetics , genetic disorder , viewpoints , pediatrics , biology , gene , art , visual arts
Two families with a total of three affected individuals are presented with the genetic disorder of hypochondroplasia. This skeletal defect is discussed from clinical, radiographic and genetic viewpoints. Because of its many similarities to achondroplasia the distinguishing features of each of these diseases are emphasized. It is of extreme importance to be able to differentiate between these two disorders as early as possible since their prognoses differ.