Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Abdel-Salam, Ghada M.H.; Flores‐Sarnat, Laura; El-Ruby, Mona; Bridge, Peter J.; Eid, Maha M.; El-Badry, Tarek H.; Effat, Laila K.; Curatolo, Paolo; Temtamy, Samia

doi:10.1002/ajmg.a.33777

Cited by 19 publications

(15 citation statements)

References 27 publications

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“…Neuropsychiatric comorbidities in our population exhibited similarities to the published literature, as well as previously unreported findings. Three male patients in our cohort presented with seizures, which have been reported in other patients with Muenke syndrome (Abdel‐Salam et al, ; Agochukwu et al, ; Okubo et al, ). Notably, three male patients were diagnosed with autism spectrum disorder.…”

Section: Discussionsupporting

confidence: 81%

“…The relatively new practice of performing posterior vault distraction as the initial surgery, thus delaying the timing of the first FOA, may account for the decreased reoperation rate in our cohort compared to the literature (Taylor and Bartlett, ). One patient in our cohort was diagnosed with Chiari malformation, which has been reported previously (Abdel‐Salam et al, ).…”

Section: Discussionsupporting

confidence: 77%

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Muenke syndrome: Medical and surgical comorbidities and long‐term management

Murali

McDonald‐McGinn

Wenger

et al. 2019

American J of Med Genetics Pt A

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Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. Affected patients exhibit wide phenotypic variability. Common features include coronal craniosynostosis, hearing loss, carpal and tarsal anomalies, and developmental/behavioral issues.Our study examined the phenotypic findings, medical management, and surgical outcomes in a cohort of 26 probands with Muenke syndrome identified at the Children's Hospital of Philadelphia. All probands had craniosynostosis; 69.7% had bicoronal synostosis only, or bicoronal and additional suture synostosis. Three male patients had autism spectrum disorder. Recurrent ear infections were the most common comorbidity, and myringotomy tube placement the most common extracranial surgical procedure. Most patients (76%) required only one fronto-orbital advancement. de novo mutations were confirmed in 33% of the families in which proband and both parents were genetically tested, while in the remaining 66% one of the parents was a mutation carrier. In affected parents, 40% had craniosynostosis, including 71% of mothers and 13% of fathers. We additionally analyzed the medical resource utilization of probands with Muenke syndrome. To our knowledge, these data represent the first comprehensive examination of long-term management in a large cohort of patients with Muenke syndrome. Our study adds valuable information regarding neuropsychiatric and medical comorbidities, and highlights findings in affected relatives. K E Y W O R D S affected family members, FGFR3, FGFR3-related craniosynostosis, Muenke syndrome, reduced penetrance, variable expressivity

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Section: Discussionsupporting

confidence: 81%

Section: Discussionsupporting

confidence: 77%

Muenke syndrome: Medical and surgical comorbidities and long‐term management

Murali

McDonald‐McGinn

Wenger

et al. 2019

American J of Med Genetics Pt A

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“…CNS: Abnormal findings are rare and may include abnormal gyral pattern, abnormal hippocampus, ventriculomegaly, callosal dysgenesis, and tonsillar herniation in single patients …”

Section: Glossarymentioning

confidence: 99%

“…CNS: Abnormal findings are rare and may include abnormal gyral pattern, abnormal hippocampus, ventriculomegaly, callosal dysgenesis, and tonsillar herniation in single patients. 154 Acrocallosal syndrome (OMIM: 200990) General information: Caused by mutations in multiple genes including KIF7, a ciliopathy gene involved in sonic hedgehog (Shh) transduction.…”

Section: Greig Cephalosyndactyly Syndrome (Omim: 175700)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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“…The most common anomalies are agenesis of the corpus callosum and ventriculomegaly [18, 23, 27, 45]. Anomalies of the corpus callosum have also been reported in patients with Muenke syndrome [1, 36]. Epilepsy has been reported in patients with Muenke syndrome, Saethre–Chotzen syndrome, and Apert syndrome [32, 35, 87, 88].…”

Section: Managementmentioning

confidence: 99%

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

2012

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Purpose More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. Methods A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Results Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Conclusions Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.

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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Cited by 19 publications

References 27 publications

Muenke syndrome: Medical and surgical comorbidities and long‐term management

Muenke syndrome: Medical and surgical comorbidities and long‐term management

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

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