Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Hypochondroplasia

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

Scoliosis

The presence of an abnormal lateral curvature of the spine.

Total: 1

(per page)

PMID (PMCID)
19274446	MIXED_SAMPLE	Infant, Newborn
	Intervertebral disc calcifications in children.
	Beluffi G, Fiori P, Sileo C. Radiol Med. 2009;114(2):331-41.
	Five calcifications were asymptomatic (one newborn baby with Patau syndrome; three patients studied to rule out scoliosis, hypochondroplasia and syndromic traits; one for dyspnoea due to sunflower seeds inhalation).