A new skeletal dysplasia: Clinical, radiologic, and pathologic findings

Burton, Barbara K.; Sumner, Thomas E.; Langer, Leonard O.; Rimoin, David L.; Adomian, G.; Lachman, Ralph S.; Nicastro, Joseph F.; Kelly, David L.; Weaver, Richard G.

doi:10.1016/s0022-3476(86)80228-1

Cited by 16 publications

(18 citation statements)

References 7 publications

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“…(Figs. 1A, 3,4) Findings are in general more marked than in type 1A. Bone dysplasia is present at birth, although myotonia may be recognized only later (as in our cases 2 and 3).…”

Section: Primary Bone Dysplasias In Sjssupporting

confidence: 43%

“…It is possible that types 1A and 1B are the childhood variant and the infantile variant of the same disease. Type 1B is exemplified by the patient of Calzolari et al [6], the two severe cases of Horan and Beighton [12] (included in the genetic study of Nicole et al [19]), our cases 2 and 3, and probably two siblings with ''pursed lips'' and a ''Kniest-like'' radiological appearance without mention of myotonia [4]. This type, apparently more severe, is illustrated by our two siblings (cases 4 and 5).…”

Section: Primary Bone Dysplasias In Sjsmentioning

confidence: 77%

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Giedion

Boltshauser

Briner

et al. 1997

European Journal of Pediatrics

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“…(Figs. 1A, 3,4) Findings are in general more marked than in type 1A. Bone dysplasia is present at birth, although myotonia may be recognized only later (as in our cases 2 and 3).…”

Section: Primary Bone Dysplasias In Sjssupporting

confidence: 43%

Section: Primary Bone Dysplasias In Sjsmentioning

confidence: 77%

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Giedion

Boltshauser

Briner

et al. 1997

European Journal of Pediatrics

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“…The permanent contracture of the perioral muscles causes clinically visible alterations, such as microstomia and pursed lips 31,33 . As a result, simple facial movements such as smiling, whistling, and winking, as well as some functions of the stomatognathic system such as mastication and swallowing, can be difficult for patients with SJS 26 , 30–32 , 34,35 . In addition, the strong contraction of the orbicularis oris muscle poses an additional difficulty for dental care.…”

Section: Discussionmentioning

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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“…Cleft palate and mental retardation have been described (4). The differential diagnosis of Desbuquois syndrome include Kniest dysplasia, which is an autosomal dominant disorder (5), Catel‐Manzke syndrome (normal birth length, slight joint laxity), and Larsen syndrome (short stature, pelvic changes similar to Desbuquois syndrome) (6).…”

Section: Discussionmentioning

confidence: 99%

Use of CobraPLA^TM for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications

Szmuk

Matuszczeak

Carlson

et al. 2005

Pediatric Anesthesia

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We present the anesthetic management of an infant with Desbuquois syndrome (a rare form of micromelic dwarfism) with a possible difficult airway. The anesthetic implications of this syndrome are presented. The airway was managed with a new supraglottic device - the CobraPLA. Although intubation through this device was not possible in this instance, CobraPLA provided a satisfactory supraglottic airway. It was easy to insert and provided satisfactory conditions for positive pressure ventilation. The CobraPLA provides another option for airway management.

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A new skeletal dysplasia: Clinical, radiologic, and pathologic findings

Cited by 16 publications

References 7 publications

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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

Use of CobraPLA^TM for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications

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A new skeletal dysplasia: Clinical, radiologic, and pathologic findings

Cited by 16 publications

References 7 publications

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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

Use of CobraPLATM for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications

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Product

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Use of CobraPLA^TM for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications