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.
April 03, 2016
- 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.