Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Al‐Gazali, Lihadh; Varghese, Mathew; Várady, E; Talabani, J. Al; Scorer, J; Bakalinova, D

doi:10.1136/jmg.33.3.203

Cited by 33 publications

(27 citation statements)

References 15 publications

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“…However, if they survive they develop progressive spinal deformity associated with insensitivity to pain leading to self-mutilating behavior and corneal scarring [Al-Gazali et al, 2003d]. This syndrome is common in certain tribes in the UAE population, and 40 cases from 25 families have been evaluated [Al-Gazali et al, 1996a;unpublished data]. Most of these families originated from Oman and Yemen, and molecular studies revealed a founder mutation (c.653_654insT) at exon 6 of the Leukemia Inhibitory Factor Receptor (LIFR) gene [Dagoneau et al, 2004] (Al-Gazali, unpublished) ( Table 6).…”

Section: Stuve-wiedemann Syndromementioning

confidence: 99%

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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Section: Stuve-wiedemann Syndromementioning

confidence: 99%

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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“…1 This syndrome has features similar to SJS-2, which was once described as a separate entity but is now regarded as STWS. [3][4][5] There have been a number of reports from the Arabian Gulf in genaral, and Oman in particular, of children with SJS-2.…”

Section: Discussionmentioning

confidence: 99%

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Koul¹,

Al-Kindy²,

Mani³

et al. 2013

SQUMJ

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Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

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“…When early diagnosis is established, the patient's quality of life can be substantially improved and the family can receive adequate genetic counselling. According to Al-Gazalli et al [7], the occurrence of SJS is intimately related with parental consanguinity.…”

Section: Discussionmentioning

confidence: 99%

Schwartz-Jampel Syndrome: a paediatric dentistry approach

Turrioni

Sakima

Giro

2013

BDS

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A síndrome de Schwartz Jampel (SSJ) é uma desordem autossômica recessiva rara, caracterizada principalmente pela miotonia. Desde que alguns dos sinais clínicos e sintomas são manifestados na região oromaxilofacial, o odontopediatra pode ser o primeiro profissional a se deparar com um paciente portador desta síndrome. Um paciente do sexo feminino diagnosticado com SJS procurou a nossa clínica para tratamento dental com queixa principal de dificuldade na realização da higiene oral e mastigação, devido ao mau posicionamento dentário. O tratamento incluiu medidas preventivas, extração de um dente supranumerário e dos segundos molares decíduos e encaminhamento para tratamento ortodôntico. Quando uma criança possui o diagnóstico confirmado para SSJ, o odontopediatra deve ter conhecimento específico para planejar e realizar o tratamento odontológico de forma adequada, considerando as características da síndrome e as possíveis complicações associadas, a fim de reduzir os riscos ao paciente, especialmente quando procedimentos cirúrgicos são necessários.Síndrome de Schwartz-Jampel: uma abordagem odontopediátrica AbstRAct Schwartz-Jampel syndrome (SJS) is a rare recessive disorder characterized mainly by myotonia. As the clinical signs and symptoms are manifested in the oromaxillofacial region, paediatric dentists may be first choice of parents that seek information and assistance to their children. A female patient diagnosed with SJS was brought to our clinic for dental treatment with main complain of difficulty on oral hygiene and mastication due to tooth crowding. The treatment included preventive measures, extraction of a supernumerary tooth and the maxillary primary second molars. Furthermore, the patient was referred to orthodontic treatment for correction of tooth crowding. When dealing with children with confirmed diagnosis of SSJ, paediatric dentists should be understand the need of planning the dental treatment considering the characteristics and possible complications associated with the syndrome in order to reduce the risks to patients, especially when surgical procedures are necessary.

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Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Abstract: Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia.

Cited by 33 publications

References 15 publications

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Schwartz-Jampel Syndrome: a paediatric dentistry approach

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