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Short Stature in KB...
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
- Article/chapterEnglish2015
Publisher, publication year, extent ...
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2015-04-01
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S. Karger AG,2015
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:131439386
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http://kipublications.ki.se/Default.aspx?queryparsed=id:131439386URI
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https://doi.org/10.1159/000380908DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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<b><i>Background:</i></b> KBG syndrome is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and skeletal anomalies. Genetic corroboration of a clinical diagnosis has been possible since 2011, upon identification of heterozygous mutations in or a deletion of the <i>ANKRD11</i> gene. <b><i>Methods:</i></b> We summarized the height data of 14 adults and 18 children (age range 2-16 years) with a genetically confirmed diagnosis of KBG syndrome. Two of these children were treated with growth hormones. <b><i>Results:</i></b> Stature below the 3rd centile or -1.88 standard deviation score (SDS) was observed in 72% of KBG children and in 57% of KBG adults. Height below -2.50 SDS was observed in 62% of KBG children and in 36% of KBG adults. The mean SDS of height in KBG children was -2.56 and in KBG adults -2.17. Two KBG children on growth hormone therapy increased their height by 0.6 and 1 SDS within 1 year, respectively. The former also received a gonadotropin-releasing hormone agonist due to medical necessity. <b><i>Conclusion:</i></b> Short stature is prevalent in KBG syndrome, and spontaneous catch-up growth beyond childhood appears limited. Growth hormone intervention in short KBG children is perceived as promising.
Added entries (persons, corporate bodies, meetings, titles ...)
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Ockeloen, CW
(author)
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Savendahl, LKarolinska Institutet
(author)
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Beckers, D
(author)
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Devriendt, K
(author)
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Kleefstra, T
(author)
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Carels, CEL
(author)
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Grigelioniene, GKarolinska Institutet
(author)
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Nordgren, AKarolinska Institutet
(author)
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Francois, I
(author)
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de Zegher, F
(author)
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Casteels, K
(author)
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Karolinska Institutet
(creator_code:org_t)
Related titles
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In:Hormone research in paediatrics: S. Karger AG83:5, s. 361-3641663-28261663-2818
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Reynaert, N
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Ockeloen, CW
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Savendahl, L
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Beckers, D
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Devriendt, K
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Kleefstra, T
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show more...
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Carels, CEL
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Grigelioniene, G
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Nordgren, A
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Francois, I
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de Zegher, F
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Casteels, K
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Hormone research ...
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Karolinska Institutet