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Schwartz-Jampel syndrome: a review of the literature and case report.
Mallineni SK, Yiu CK, King NM. Mallineni SK, et al. Spec Care Dentist. 2012 Jun;32(3):105-11. doi: 10.1111/j.1754-4505.2012.00249.x. Epub 2012 Apr 26. Spec Care Dentist. 2012. PMID: 22591433 Review.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. ...
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. ...
The Schwartz-Jampel syndrome.
al Gazali LI. al Gazali LI. Clin Dysmorphol. 1993 Jan;2(1):47-54. Clin Dysmorphol. 1993. PMID: 8298738
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. ...
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complicatio …
Levator aponeurosis surgery in Schwartz-Jampel syndrome.
Cruz AA, Souza CA, Plastino Júnior LS. Cruz AA, et al. Ophthalmic Plast Reconstr Surg. 1998 Jul;14(4):271-6. doi: 10.1097/00002341-199807000-00009. Ophthalmic Plast Reconstr Surg. 1998. PMID: 9700736 Review.
Schwartz-Jampel syndrome is a rare disorder with prominent palpebral fissure changes. These changes are complex and have been described as ptosis, blepharophimosis, and blepharospasm. Two new cases of the Schwartz-Jampel syndrome and the …
Schwartz-Jampel syndrome is a rare disorder with prominent palpebral fissure changes. These changes are complex and hav …
Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping".
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. ...
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome …
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.
Nessler M, Puchala J, Kwiatkowski S, Kobylarz K, Mojsa I, Chrapusta-Klimeczek A. Nessler M, et al. Ann Plast Surg. 2011 Sep;67(3):315-9. doi: 10.1097/SAP.0b013e3181fac1ec. Ann Plast Surg. 2011. PMID: 21263291 Review.
Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. ...Surgical treatment is risky, due to a low tolerance of anesthetics and high risk of malignant hyperthermia. …
Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in …
Long-term follow-up of a Schwartz-Jampel syndrome case.
Kuliński W, Burak M, Michalska A. Kuliński W, et al. Wiad Lek. 2018;71(7):1429-1432. Wiad Lek. 2018. PMID: 30448822
Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. ...
Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. ...
Schwartz-Jampel syndrome: report of five cases.
Reed UC, Reimao R, Espindola AA, Kok F, Ferreira LG, Resende MB, Messias TC, Carvalho MS, Diament A, Scaff M, Marie SK. Reed UC, et al. Arq Neuropsiquiatr. 2002 Sep;60(3-B):734-8. Arq Neuropsiquiatr. 2002. PMID: 12364940 Free article.
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its differen …
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular diso …
Results of botulinum toxin: an application to blepharospasm Schwartz-Jampel syndrome.
Vargel I, Canter HI, Topaloglu H, Erk Y. Vargel I, et al. J Craniofac Surg. 2006 Jul;17(4):656-60. doi: 10.1097/00001665-200607000-00008. J Craniofac Surg. 2006. PMID: 16877909
Schwartz-Jampel syndrome (SJS) is a rare congenital disorder of continuous myotonia, causing visual and eyelid problems such as blepharospasm, acquired ptosis, and blepharophimosis. ...Application of BTX-A to orbicularis oculi muscle for the treatment of blep …
Schwartz-Jampel syndrome (SJS) is a rare congenital disorder of continuous myotonia, causing visual and eyelid problems …
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE. Spranger J, et al. Am J Med Genet. 2000 Oct 2;94(4):287-95. doi: 10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g. Am J Med Genet. 2000. PMID: 11038441
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome …
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling K …
The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis.
Regalo SC, Vitti M, Semprini M, de Mattos Mda G, Hallak JE, Brandão C, Serrano KV. Regalo SC, et al. Electromyogr Clin Neurophysiol. 2005 Apr-May;45(3):183-9. Electromyogr Clin Neurophysiol. 2005. PMID: 15981691
This study had the goal to perform an electromyography evaluation of the orbicularis oris, orbicularis oculi, masseter, and temporal muscles of two siblings with Schwartz-Jampel syndrome (SJS), in different clinical activities, comparing them to healthy contr …
This study had the goal to perform an electromyography evaluation of the orbicularis oris, orbicularis oculi, masseter, and temporal muscles …
21 results