King-Denborough Syndrome: report of two Brazilian cases
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting 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.
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Academia Brasileira de Neurologia - ABNEURO
2002
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oai:scielo:S0004-282X20020005000112002-10-01King-Denborough Syndrome: report of two Brazilian casesReed,Umbertina ContiResende,Maria Bernardete DutraFerreira,Lúcio GobboCarvalho,Mary SouzaDiament,AronScaff,MilbertoMarie,Suely Kazue Nagahashi King-Denborough syndrome congenital myopathy malignant hyperthermia We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.60 n.3B 20022002-09-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011en10.1590/S0004-282X2002000500011 |
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Reed,Umbertina Conti Resende,Maria Bernardete Dutra Ferreira,Lúcio Gobbo Carvalho,Mary Souza Diament,Aron Scaff,Milberto Marie,Suely Kazue Nagahashi |
spellingShingle |
Reed,Umbertina Conti Resende,Maria Bernardete Dutra Ferreira,Lúcio Gobbo Carvalho,Mary Souza Diament,Aron Scaff,Milberto Marie,Suely Kazue Nagahashi King-Denborough Syndrome: report of two Brazilian cases |
author_facet |
Reed,Umbertina Conti Resende,Maria Bernardete Dutra Ferreira,Lúcio Gobbo Carvalho,Mary Souza Diament,Aron Scaff,Milberto Marie,Suely Kazue Nagahashi |
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Reed,Umbertina Conti |
title |
King-Denborough Syndrome: report of two Brazilian cases |
title_short |
King-Denborough Syndrome: report of two Brazilian cases |
title_full |
King-Denborough Syndrome: report of two Brazilian cases |
title_fullStr |
King-Denborough Syndrome: report of two Brazilian cases |
title_full_unstemmed |
King-Denborough Syndrome: report of two Brazilian cases |
title_sort |
king-denborough syndrome: report of two brazilian cases |
description |
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting 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. |
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Academia Brasileira de Neurologia - ABNEURO |
publishDate |
2002 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011 |
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