Reference
1. FONTAINE B. Orphanet: Schwartz Jampel syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=800. Published 2020. Updated February 2020. Accessed 02, April 2020.
2. SCHWARTZ O, JAMPEL RS. Congenital Blepharophimosis Associated with a Unique Generalized Myopathy. Archives of Ophthalmology.1962;68(1):52-57.
3. Nicole S, Davoine C-S, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genetics. 2000;26(4):480-483.
4. Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet. 1992;29(1):58-62.
5. Díaz-Serrano KV, Brandão CB, Brandão RB, Watanabe PCA, Regalo SCH. Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings. Spec Care Dentist. 2006;26(5):225-229.
6. Mallineni SK, Yiu CKY, King NM. Schwartz–Jampel syndrome: a review of the literature and case report. Special Care in Dentistry.2012;32(3):105-111.
7. Cook SP, Borkowski WJ. Obstructive Sleep Apnea in Schwartz-Jampel Syndrome. Archives of Otolaryngology–Head & Neck Surgery.1997;123(12):1348-1350.
8. Guilleminault C, Huang Y-S. From oral facial dysfunction to dysmorphism and the onset of pediatric OSA. Sleep Medicine Reviews. 2018;40:203-214.