The genetic entity of hypochondroplasia

M. Frydman, M. Hertz, R. M. Goodman

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)223-229
Number of pages7
JournalClinical Genetics
Volume5
Issue number3
DOIs
StatePublished - Mar 1974

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