Hypochondroplasia

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

Hypoglycemia

A decreased concentration of glucose in the blood.


Total: 1

                      


(per page)
PMID (PMCID)
22888019
FEMALE Infant, Newborn
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.
Bober MB, Taylor M, Heinle R, Mackenzie W.
Am J Med Genet A. 2012;158A(9):2336-41.
In addition to having typical problems associated with both achondroplasia and hypochondroplasia, our patient had several atypical findings including: abnormal lobulation of the lungs with respiratory insufficiency, C1 stenosis, and hypoglycemia following a Nissen fundoplication.