King syndrome: Further clinical variability and review of the literature

Graham, Gail E.; Silver, Kenneth; Arlet, Vincent; Kaloustian, Vazken M. Der

doi:10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co;2-p

Cited by 21 publications

(8 citation statements)

References 20 publications

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“…Cleft palate or high arched palate was described in some patients. 2,3 Most patients were of normal intelligence. In 1988, Stewart and colleagues 4 presented six children, all of whom were Lumbee Indians, who had physical features in common with King syndrome.…”

Section: Conclusion : L'utilisation D'analgésie éPidurale D'une Survmentioning

confidence: 99%

Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome

Habib

Millar

DeBalli

et al. 2003

Can J Anesth/J Can Anesth

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P Pu ur rp po os se e: : The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility to malignant hyperthermia (MH) as well as congenital skeletal and facial anomalies. We report the anesthetic management of a parturient with KDS.C Cl li in ni ic ca al l f fe ea at tu ur re es s: : We describe the management of a 24-yr-old primiparous woman with a diagnosis of KDS and a history of previous MH reaction (age two). Her KDS resulted in chronic respiratory failure. She had a permanent tracheostomy and required overnight ventilatory support for the previous two years. She had three admissions during her pregnancy, one for pneumonia and two for preterm labour. Labour was induced at 37 weeks. Her labour was managed in the operating room where a "clean" anesthesia machine was ready. Cooling aids and a MH emergency kit were immediately available. Intravenous access, an arterial line and a lumbar epidural catheter were inserted before induction of labour.Ropivacaine 0.08% + fentanyl 2 µg·mL -1 were used for patientcontrolled epidural analgesia. After 6.5 hr of labour the patient required ventilation. An outlet forceps was performed for delivery. Postpartum, she was ventilated overnight in the intensive care unit.C Co on nc cl lu us si io on n: : The use of epidural analgesia, close monitoring and collaboration between the various disciplines were important in achieving a safe and uneventful labour in this high-risk parturient. King-Denborough (SKD) Objectif : Le syndrome de

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Section: Conclusion : L'utilisation D'analgésie éPidurale D'une Survmentioning

confidence: 99%

Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome

Habib

Millar

DeBalli

et al. 2003

Can J Anesth/J Can Anesth

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“…Our patients had most of the characteristic phenotypical aspects, although unlike other reported cases, they had normal height and did not manifest dental crowding / malocclusion. As there is some phenotypic overlap between the King and Noonan syndromes, the latter a multiple congenital anomaly syndrome inherited in an autosomal dominant pattern, a genetic reIationship between the two syndromes has been supposed 5 . However, Noonan syndrome, that was already reported in Brazilian children [7][8][9] , is not associated with myopathic changes and presents characteristic heart defect in 65% of the patients.…”

Section: Discussionmentioning

confidence: 99%

“…However, Noonan syndrome, that was already reported in Brazilian children [7][8][9] , is not associated with myopathic changes and presents characteristic heart defect in 65% of the patients. The definition that King and Noonan syndromes may represent allelic autosomal dominant entities or be independent and linked to separate loci, depends on further molecular studies 5 . It has also been proposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies 6 .…”

Section: Discussionmentioning

confidence: 99%

“…Como a síndrome se acompanha de alto risco de desenvolver hipertermia maligna na indução anestésica, o objetivo deste relato é chamar a atenção para a necessidade do diagnóstico pré-operatório, a fim de evitar esta gravíssima intercorrência. The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia (MH), skeletal abnormalities and dysmorphic features with characteristic facial appearance [1][2][3][4][5] . We present the first report in Brazil concerning two KDS patients and as these children are predisposed to developing MH, our objective is increasing the awareness of this disorder.…”

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confidence: 99%

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King-Denborough Syndrome: report of two Brazilian cases

Reed

Resende

Ferreira

et al. 2002

Arq. Neuro-Psiquiatr.

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-We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, downslanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.KEY WORDS: King-Denborough syndrome, congenital myopathy, malignant hyperthermia. Síndrome de King-Denborough: relato de dois casosRESUMO -Relatamos dois meninos de 2 e 6 anos de idade que apresentam aspectos dismórficos caracterizados por facies alongada, ptose e fenda palpebral anti-mongólica, hipertelorismo, epicanto bilateral, orelhas de implantação baixa, hipoplasia malar, micrognatia, pálato ogival, clinodactilia, prega palmar única, "pectus excavatum", escápulas aladas, lordose lombar e escoliose torácica. Apresentam hipotonia congênita, hiperextensibilidade articular, fraqueza muscular e retardo do desenvolvimento motor. A biópsia muscular revelou em ambos alterações mínimas: variabilidade do tamanho das fibras, predomínio e atrofia de fibras tipo I, discreta infiltração perimisial e desarranjo intermiofibrilar. Os aspectos dismórficos associados à miopatia congênita configuram a síndrome de King-Denborough, da qual acreditamos serem estes os primeiros casos descritos no Brasil. Como a síndrome se acompanha de alto risco de desenvolver hipertermia maligna na indução anestésica, o objetivo deste relato é chamar a atenção para a necessidade do diagnóstico pré-operatório, a fim de evitar esta gravíssima intercorrência. PALAVRAS-CHAVE: síndrome de King-Denborough, miopatia congênita, hipertermia maligna.

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“…Although CDH is caused by defective formation and/or fusion of the pleuroperitoneal membrane in the 10-week embryo, CDE is caused by diaphragm muscle weakness, either secondary (phrenic nerve palsy) or primitive. Diaphragmatic paralysis has been reported in association with several genetic neuromuscular disorders, such as the rare distal spinal muscular atrophy with diaphragm paralysis type 1 [5], King syndrome [6], X-linked centronuclear myopathy, congenital muscular dystrophy [7], congenital myotonic dystrophy [8], and NM [9]. NM is the most common congenital myopathy (2 per 100,000 live births) and is a genetically and clinically heterogeneous, slowly-or nonprogressive disease caused by skeletal muscle thin filament defects [10].…”

Section: E20mentioning

confidence: 99%