Abstract | BACKGROUND:
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 ANKRD11 gene. METHODS: 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. RESULTS: 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. CONCLUSION: 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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Authors | Nele Reynaert, C W Ockeloen, L Sävendahl, D Beckers, K Devriendt, T Kleefstra, C E L Carels, G Grigelioniene, A Nordgren, I Francois, F de Zegher, K Casteels |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 83
Issue 5
Pg. 361-4
( 2015)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 25833229
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2015 S. Karger AG, Basel. |
Chemical References |
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Topics |
- Abnormalities, Multiple
- Bone Diseases, Developmental
(complications)
- Child
- Facies
- Growth Disorders
(complications, drug therapy)
- Human Growth Hormone
(therapeutic use)
- Humans
- Intellectual Disability
(complications)
- Male
- Tooth Abnormalities
(complications)
- Treatment Outcome
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