The genetic basis of Dwarfism

Research output: Contribution to journalReview articlepeer-review

Abstract

Achondroplasia, the most common form of dwarfism, is inherited as an autosomal dominant trait with complete penetrance. With an estimated frequency of between 1 per 15,000 and 1 per 40,000 live births, it is one of the more common mendelian disorders. Although the severity of the medical complications associated with achondroplasia is variable, the physical and radiographic features of the disorder (short limbs with a normal trunk) are remarkably consistent. Homozygous achondroplasia (occurring in one quarter of the offspring of two parents with achondroplasia) is inevitably fatal in the first year or two of life. Both people with achondroplasia and…

Original languageEnglish (US)
Pages (from-to)58-59
Number of pages2
JournalNew England Journal of Medicine
Volume332
Issue number1
DOIs
StatePublished - Jan 5 1995
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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