Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

Doherty, Emily S; Lacbawan, Felicitas; Hadley, Donald W.; Brewer, Carmen C.; Zalewski, Christopher; Kim, H. Jeff; Solomon, Beth; Rosenbaum, Kenneth N.; Domingo, Demetrio L.; Hart, Thomas C.; Brooks, Brian P.; Immken, La Donna; Lowry, R. Brian; Kimonis, Virginia; Shanske, Alan; Jehee, Fernanda Sarquis; Bueno, Maria Rita Passos; Knightly, Carol; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Muenke, Maximilian

doi:10.1002/ajmg.a.32078

Cited by 108 publications

(115 citation statements)

References 46 publications

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“…7 ). Muenke syndrome is additionally associated with strabismus, low-frequency hearing impairment (mostly sensorineural) with 20% requiring a hearing aid, carpal and tarsal synostosis, brachydactyly, thick straight hair, and neurodevelopmental delay [Doherty et al, 2007;de Jong et al, 2010;Johnson and Wilkie, 2011;Kruszka et al, 2016]. Seizures are identified as an association with Muenke syndrome, but not related to increased ICP, and a cause theorised as temporal anomalies [Grosso et al, 2003;Agochukwu et al, 2012b].…”

Section: Muenke Syndromementioning

confidence: 99%

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Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

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Section: Muenke Syndromementioning

confidence: 99%

“…Muenke syndrome was genetically described in 1997 [Muenke et al, 1997] and is now the most common syndromic presentation with a prevalence of 1 in 10,000-30,000 live births [Doherty et al, 2007;Wilkie et al, 2017]. This syndrome results from mutation c.749C>G in the FGFR3 gene, resulting in p.Pro250Arg [Muenke et al, 1997].…”

Section: Muenke Syndromementioning

confidence: 99%

Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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“…9,12 Mean FSIQs of patients who have Muenke and Saethre-Chotzen syndrome ranged from 50 to 120. [12][13][14][15][16] No published studies were found on intellectual functioning in children who have complex craniosynostosis.…”

mentioning

confidence: 99%

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Maliepaard

Mathijssen²,

Oosterlaan

et al. 2014

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: Children who have syndromic craniosynostosis are at risk for developing intellectual disability, behavioral and emotional problems. Study results were often based on small samples and wide age-based variation, using nonvalidated instruments and describing no clear inclusion and exclusion criteria.WHAT THIS STUDY ADDS: Intellectual, behavioral, and emotional functioning is described in a national sample (N = 82) of schoolaged children with syndromic craniosynostosis. Using standardized instruments, this study indicates higher risks for intellectual disability and behavioral problems mainly in children having Apert and Muenke syndromes. abstract OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS:A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. RESULTS:We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ ,85) compared with the normative population (P ,.001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P , .001), Internalizing (P , .01), social problems (P , .001), attention problems (P , .001), and the DBD Inattention (P , .001).Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P , .01), attention problems (P , .05), and inattention problems (P , .01) than normative population and with other diagnostic subgroups. CONCLUSIONS: Although children who have syndromic craniosynostosishave FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning. Pediatrics 2014;133:e1608-e1615 AUTHORS:

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“…It is caused by a mutation (Pro250Arg) of the FGFR3 gene, with autosomal dominant inheritance and variable clinical expression [16].…”

Section: Syndromal Craniosynostosesmentioning

confidence: 99%