Tests and diagnosis
Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.
MRI uses a magnetic field and radio waves to create detailed images of the organs and tissues within your body.
Sept. 11, 2014
- Bang GM, et al. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2013;17:100.
- Frequently asked questions. Little People of America. http://www.lpaonline.org/faq-. Accessed Aug. 3, 2014.
- Achondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/achondroplasia. Accessed Aug. 5, 2014.
- Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed Aug. 5, 2014.
- Rogol AD. Causes of short stature. http://www.uptodate.com/home. Accessed Aug. 5, 2014.
- Isolated growth hormone deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency. Accessed Aug. 5, 2014.
- Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed Aug. 5, 2014.
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed Aug. 5, 2014.
- Pauli RM. Achondroplasia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed Aug. 5, 2014.
- Wright MJ, et al. Clinical management of achondroplasia. Archives of Diseases in Childhood. 2012;97:129.
- Ireland PJ, et al. Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics. 2014;7:117.
- Hypopituitarism in children resulting in short stature. The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/pituitary_disorders/hypopituitarism_in_children_resulting_in_short_stature.html?qt=&sc=&alt=. Accessed Aug. 5, 2014.
- Deyle DR (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 25, 2014.
- Bodensteiner JB (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 29, 2014.