A case of Schwartz–Jampel syndrome with cleft palate

Abdel‐Aziz, Mosaad; Azab, Noha A.

doi:10.1016/j.ijporl.2009.08.012

Cited by 5 publications

(8 citation statements)

References 11 publications

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“…There is extensive literature 1 — 8,10 , 13–17 on the medical findings in patients with SJS; however, very few case reports have described the dental findings in this syndrome. The oral findings in our patient were compared with other published case reports 29–32 . It was evident that microstomia, micrognathia, pursed lips, and mandibular hypoplasia were consistent oral findings in patients with SJS.…”

Section: Discussionsupporting

confidence: 74%

“…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%

“…Similarly, our patient had a missing mandibular left permanent central incisor. Abdel–Aziz and Azab 32 reported on a patient with SJS who had a cleft palate that affected the child's feeding, and resulted in growth retardation. Surgical repair of the cleft palate is a challenge in these patients.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 74%

Section: Discussionmentioning

confidence: 99%

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

Mallineni¹,

Yiu

King³

2012

Special Care in Dentistry

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“… 58 , 59 Cleft palate can be seen in both of these syndromes. 60 Similarly, Hspg2 -null embryos also have skeletal abnormalities and cleft palates. 61 Although congenital heart defects are not typical features associated with dyssegmental dysplasia Silverman-Handmaker type or Schwartz–Jampel syndrome, type 1, Hspg2 -null embryos have cardiac anomalies, including transposition of the great arteries and malformations of the semilunar valves.…”

Section: Genes That May Contribute To 1p36 Deletion Phenotypesmentioning

confidence: 99%

1p36 deletion syndrome: an update

Jordan¹,

Zaveri²,

Scott³

2015

TACG

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Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

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“…Patients also present with micrognathia, microstomia, jaw muscle rigidity, and thermoregulatory disturbance, with an increased risk of malignant hyperthermia (MH) and having a difficult airway. [ 3 4 5 6 7 8 ] We report the anesthetic management of a youngster with SJS proposed to multiple dental extractions and alveoloplasty.…”

Section: Introductionmentioning

confidence: 99%

A successful anesthetic approach in a patient with Schwartz–Jampel syndrome

2018

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Schwartz–Jampel syndrome (SJS) is a rare genetic condition that is characterized by several musculoskeletal abnormalities, such as myotonia, joint contractures, and facial dysmorphisms. Patients with this syndrome can present an anesthetic challenge, due to an increased risk of developing malignant hyperthermia (MH) and the possibility of encountering a difficult airway. Several precautions must be taken when general anesthesia is required, such as the avoidance of potential triggers for MH, continuous core temperature, and end-tidal CO2 monitoring, assuring that dantrolene is readily available. It is also fundamental to prepare for a possible difficult airway, guaranteeing that difficult airway devices are available. We describe the anesthetic management of a 14-year-old boy diagnosed with SJS who was scheduled for multiple dental extractions and was successfully anesthetized with our approach.

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A case of Schwartz–Jampel syndrome with cleft palate

Cited by 5 publications

References 11 publications

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

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

1p36 deletion syndrome: an update

A successful anesthetic approach in a patient with Schwartz–Jampel syndrome

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