Dental agenesis is the most common developmental anomaly in humans and is frequently
associated with several other oral abnormalities. Whereas the incidence of missing teeth …

Schwartz–Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia
associated with myotonia. The manifestations of SJS include short stature …

Abstract Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital
disorder, which results from disturbance in a perlecan protein synthesis. Most affected are …

In this case, extensive dental caries and restricted mouth opening were identified in a 9-year-
old Turkish girl with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1) who had …

Die Handlungsempfehlungen von OrphanAnesthesia sind standardisiert und durch laufen
nach ihrer Erstellung einen PeerReviewProzess, an dem eine Anästhesistin bzw. ein …

The orthodontic diagnosis and comprehensive management of a 12.5-year-old Saudi girl,
diagnosed with Schwartz-Jampel Syndrome (SJS) is presented. SJS is a rare autosomal …

Amaç: Schwartz–Jampel Sendromu (SJS) miyotoni ile ilişkili, milyonda bir görülen nadir bir
otozomal resesif iskelet displazisidir. Bu olgu sunumunda SJS'li 2 hasta ele alınmış olup …

We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not
only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the …

ABSTRACT The Schwartz-Jampel syndrome is a rare autosomal recessive disorder, as only
129 cases have been reported worldwide and affects less than one person in 10 million. The …

El síndrome de Schwartz-Jampel es un desorden autosómico recesivo poco frecuente, ya
que sólo han sido reportados 129 casos a nivel mundial; afecta a menos de una persona …