Schwartz-Jampel syndrome in two daughters of first cousins.

Pavone, Lorenzo; Mollica, F; Grasso, A; Cao, Antonio; Gullotta, F.

doi:10.1136/jnnp.41.2.161

Cited by 25 publications

(6 citation statements)

References 12 publications

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“…Based on our personal experience and a review of the literature we conclude that the Schwartz‐Jampel syndrome is an autosomal recessive disorder with a remarkably wide range of phenotypic expression extending from severe neonatal manifestations with kyphomelic bowing of the bones to cases with minimal bone involvement that are mainly published in the neurological literature [e.g., Pavone et al, 1978; Spaans et al, 1990]. As demonstrated here, patients with early osseous changes exhibit increasing stiffness that will result in physical incapacitation in early adulthood.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

et al. 2000

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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 (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stüve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.

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Section: Discussionmentioning

confidence: 99%

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

et al. 2000

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“…P aw neet al [17] described, in the mother of their 2 patients, typical electric muscle activity. Her EMG did not show a waxing and waning pattern during rest.…”

Section: Discussionmentioning

confidence: 99%

Schwartz-Jampel Syndrome with Autosomal-Dominant Inheritance

et al. 1982

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A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest in 3 other members of the same family. On the basis of our data, we suggest that inheritance of the Schwartz-Jampel syndrome may not only be recessive, as reported by most authors, but also dominant, with a different clinical expression.

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“…It was initially thought to be neurogenic in etiology and a very rare disease, even though autosomal recessive inheritance has been suggested for this disease 12 . SJS is also believed to be an autosomal dominant manifestation 13 .…”

Section: Introductionmentioning

confidence: 99%

“…11 It was initially thought to be neurogenic in etiology and a very rare disease, even though autosomal recessive inheritance has been suggested for this disease. 12 SJS is also believed to be an autosomal dominant manifestation. 13 The linkage of SJS to human chromosome 1p34-p36 14 and splicing mutations of the gene encoding the protein perlecan have been found to be responsible for this syndrome.…”

Section: Introductionmentioning

confidence: 99%

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

Mallineni¹,

Yiu

King³

2012

Special Care in Dentistry

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Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.

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Schwartz-Jampel syndrome in two daughters of first cousins.

Cited by 25 publications

References 12 publications

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

Schwartz-Jampel Syndrome with Autosomal-Dominant Inheritance

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

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