Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
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Hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Skin dimple

Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.

Total: 1

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PMID (PMCID)
28763161	FEMALE	Child
	Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
	Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V. Am J Med Genet A. 2017;173(10):2747-2752.
	In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth.