Hypochondroplasia: Report of A Case

Kim, Sang Lim; Kim, Keun Woo; Ko, Han Suk; Tae, Suk Kee; Oh, Jong Taek

doi:10.4055/jkoa.1987.22.6.1379

J Korean Orthop Assoc. 1987 Dec;22(6):1379-1386. Korean.
Published online Jan 29, 2019.
https://doi.org/10.4055/jkoa.1987.22.6.1379

Case Report

Hypochondroplasia: Report of A Case

Sang Lim Kim, Keun Woo Kim, Han Suk Ko, Suk Kee Tae and Jong Taek Oh

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Copyright and License

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hypochondroplasia is a form of short - limbed dwarfism that resembles achondroplasia in mild degree. However, the faces and the hands have normal configuration and the stigmata are'generally milder. It is supposedly trsnsmitted as an autosomal dominant trait and diagnosed with characteristic growth pattern and roentgenogrsphic features. We have experienced one case of hypochondroplasia.

Keywords

Hypochondroplasia; Dwarfism