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Short Stature in KB...
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
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Reynaert, N (författare)
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Ockeloen, CW (författare)
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- Savendahl, L (författare)
- Karolinska Institutet
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Beckers, D (författare)
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Devriendt, K (författare)
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Kleefstra, T (författare)
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Carels, CEL (författare)
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- Grigelioniene, G (författare)
- Karolinska Institutet
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- Nordgren, A (författare)
- Karolinska Institutet
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Francois, I (författare)
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de Zegher, F (författare)
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Casteels, K (författare)
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(creator_code:org_t)
- 2015-04-01
- 2015
- Engelska.
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Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 83:5, s. 361-364
- Relaterad länk:
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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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.
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Reynaert, N
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Ockeloen, CW
-
Savendahl, L
-
Beckers, D
-
Devriendt, K
-
Kleefstra, T
-
visa fler...
-
Carels, CEL
-
Grigelioniene, G
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Nordgren, A
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Francois, I
-
de Zegher, F
-
Casteels, K
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visa färre...
- Artiklar i publikationen
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Hormone research ...
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Karolinska Institutet