KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

Skjei, Karen L.; Martín, M. C.; Slavotinek, Anne

doi:10.1002/ajmg.a.31597

Cited by 81 publications

(135 citation statements)

References 10 publications

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“…Until recently, the clinical diagnosis of KBG syndrome has been based on criteria described by Skjei et al [4]. Postnatal short stature, defined as height below centile 3 (-1.88 SDS) with a birth weight above centile 3 is one of these criteria.…”

Section: Literature Review Of Height In Kbg Syndromementioning

confidence: 99%

“…Postnatal short stature, defined as height below centile 3 (-1.88 SDS) with a birth weight above centile 3 is one of these criteria. In the report of Skjei et al [4], 46 clinically diagnosed patients were described: 83% had a height below centile 10 (-1.28 SDS) and 68% had a height below centile 3. Brancati et al [6] reported that the mean stature in 8 adults with clinical KBG syndrome was 149 cm for women and 153.6 cm for men.…”

Section: Literature Review Of Height In Kbg Syndromementioning

confidence: 99%

“…They described 7 patients from 3 unrelated families with surname initials K, B and G. The syndrome is a rare disorder with approximately 80 patients reported since the original description [2,3]. Based on a review of 46 cases, Skjei et al [4] delineated 8 major diagnostic criteria for clinical diagnosis in the absence of a molecular diagnosis. In order to make the diagnosis of KBG syndrome, ≥4 of the 8 major criteria must be fulfilled.…”

Section: Introductionmentioning

confidence: 99%

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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Reynaert¹,

Ockeloen²,

Sävendahl³

et al. 2015

Horm Res Paediatr

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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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Section: Literature Review Of Height In Kbg Syndromementioning

confidence: 99%

Section: Literature Review Of Height In Kbg Syndromementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Reynaert¹,

Ockeloen²,

Sävendahl³

et al. 2015

Horm Res Paediatr

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“…Although diagnostic criteria have been proposed by several authors, there is no consensus on the clinical diagnostic criteria for KBG [Skjei et al, 2007;Low et al, 2016;Murray et al, 2017]. Eight major criteria were initially defined (macrodontia of the upper central permanent incisors, characteristic facial appearance, hand anomalies, neurological involvement, delayed bone age, costovertebral anomalies, short stature, and the presence of a first-degree relative with KBG syndrome) [Skjei et al, 2007].…”

mentioning

confidence: 99%

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Scarano¹,

Tassone²,

Graziano

et al. 2019

Mol Syndromol

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KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include ANKRD11. It is characterized by distinctive facial features, developmental delay, short stature, and skeletal anomalies. We report 12 unrelated patients where a clinical diagnosis of KBG was suspected and confirmed by targeted analyses. Nine patients showed a point mutation in ANKRD11 (none of which were previously reported) and 3 carried a 16q24.3 deletion. All patients presented with typical facial features and macrodontia. Skeletal abnormalities were constant, and the majority of patients showed joint stiffness. Three patients required growth hormone treatment with a significant increase of height velocity. Brain malformations were identified in 8 patients. All patients showed behavioral abnormalities and most had developmental delay. Two patients had hematological abnormalities. We emphasize that genetic analysis of ANKRD11 can easily reach a detection rate higher than 50% thanks to clinical phenotyping, although it is known that a subset of ANKRD11-mutated patients show very mild features and will be more easily identified through the implementation of gene panels or exome sequencing. Joint stiffness was reported previously in few patients, but it seems to be a common feature and can be helpful for the diagnosis. Hematological abnormalities could be present and warrant a specific follow-up.

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“…shown to cause KBG syndrome (MIM148050), characterized by intellectual disability (ID), behavioral abnormalities, macrodontia of upper central incisors, and skeletal anomalies (Brancati et al 2006;Herrmann et al 1975;Skjei et al 2007;Sirmaci et al 2011). Heterozygous deletions at 16q24.3 that contain the ANKRD11 gene were also described in patients with ID, autistic spectrum disorder, and in some cases with brain anomalies, a clinical phenotype overlapping with KBG syndrome (Marshall et al 2008;Willemsen et al 2010;Handrigan et al 2013;Isrie et al 2012;Sacharow et al 2012;Khalifa et al 2013;Miyatake et al 2013).…”

mentioning

confidence: 99%