Schwartz–Jampel syndrome: a review of the literature and case report

Mallineni, Sreekanth Kumar; Yiu, Cynthia Kar Yung; King, Nigel M.

doi:10.1111/j.1754-4505.2012.00249.x

Cited by 20 publications

(24 citation statements)

References 35 publications

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“…Schwartz–Jampel syndrome is an uncommon autosomal recessive disorder associated with mutations in the HSPG2 gene encoding perlecan, the major heparan sulfate proteoglycan of basement membranes. The presentation includes short stature, blepharophimosis (ptosis with reduced lid size), and chondrodysplasia manifesting as kyphoscoliosis, bowing of long bones, and pectus carinatum . Percussion myotonia and depressed reflexes are found on examination.…”

Section: Differential Diagnosismentioning

confidence: 99%

Isaacs syndrome: A review

2015

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Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy.

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Section: Differential Diagnosismentioning

confidence: 99%

Isaacs syndrome: A review

2015

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“…4 It has also been reported that the unilateral form of dental agenesis was more common than the bilateral version. 4,14,15 Single mandibular central incisor in mandible in has been reported and authors stated found the association with chromosome 18p. 16 Similarly, in the present case unilateral absence of central incisor was evident in both primary and permanent dentition.…”

Section: Discussionmentioning

confidence: 98%

A Unique Presentation of Concomitant Hypo-Hyperdontia in Seven Year Old Child: A Rare Report

Mallineni¹,

Mohiuddin²,

Patil³

et al. 2015

J Dent Indones

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Numerical variations of teeth are common. Hypodontia considered being presence of less number of teeth in normal complement while extra teeth to normal dentition are considered as hyperdontia. Hypodontia and hyperdontia are two opposite numerical variations of human dentition and occurrence of these two conditions is called as concomitant hypo-hyperdontia. The occurrence of hypo-hyperdontia in a patient is common. This report describes a rare occurrence of conical shape supernumerary teeth in premolar region and agenesis of tooth 55 and 81 in primary dentition and teeth 15, 25 and 41 in permanent dentition.

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“…Patients with the Freeman-Sheldon syndrome may have problems to ventilate their airways and be at a high risk of developing pulmonary complications 26 . Patients with the Schwartz-Jampel syndrome are at risk of developing malignant hyperthermia 45 . Similarly, in Moebius syndrome there is a risk of palatine tracheomalacia and uvula weakness leading to the loss of airway function and respiratory insufficiency 28 .…”

Section: Therapeutic Adaptations In Patients With Microstomiamentioning

confidence: 99%

“…To treat patients with microstomia, the dentist will need small rotary instruments such as dental burs with small heads and short axis 21,42,44,45 . The use of magnifying loupes to work with more precision is often helpful.…”

Section: Therapeutic Adaptations In Patients With Microstomiamentioning

confidence: 99%

Dental management of patients with microstomia. A review of the literature and update on the treatment.

Silvestre‐Rangil¹,

Martínez-Herrera²,

Silvestre³

2015

J Oral Res

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Difficulty in dental management is one of the factors that characterize the patient that requires special care in dentistry. One of the clinical conditions that make dental treatment particularly complex is microstomia. Microstomia is defined as a small and insufficient oral aperture that will hinder diagnosis and dental treatment. Although there have been reports of patients with diseases and syndromes that cause microstomia, the available literature offers only a limited number of reviews on this topic. The aim of this paper is to present a review of the etiology, clinical characteristics, diagnosis and treatment of microstomia. In addition, to describe the therapeutic adaptations to be applied in dental procedures in patients with microstomia, emphasizing the importance of a preventive approach in this group of patients.

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Schwartz–Jampel syndrome: a review of the literature and case report

Cited by 20 publications

References 35 publications

Isaacs syndrome: A review

Isaacs syndrome: A review

A Unique Presentation of Concomitant Hypo-Hyperdontia in Seven Year Old Child: A Rare Report

Dental management of patients with microstomia. A review of the literature and update on the treatment.

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