Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Phenotypic variability in Muenke syndrome-observations from five Danish families

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Microvascular dysfunction is associated with plasma osteoprotegerin levels in patients with acute myocardial infarction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Comparison of patients undergoing enhanced external counterpulsation and spinal cord stimulation for refractory angina pectoris

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Serum levels of YKL-40 increases in patients with acute myocardial infarction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Danish expanded newborn screening is a successful preventive public health programme

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Dynamic soft tissue changes in the orbit after a blowout fracture

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase awareness of the high phenotypic variability seen in Muenke syndrome. DNA testing for the p.Pro250Arg mutation is routinely performed in Denmark, in children presenting with isolated coronal synostosis. Verified diagnosis entails detailed family history, drawing of family pedigree, DNA testing of the parents, genetic counseling, skull radiographs, clinical photographs, and follow-up. Sixteen individuals from 5 Danish families with Muenke syndrome are presented. Large phenotypic variation was seen both within and across families. The most striking observations were that 6/16 (38%) cases did not have craniosynostosis and one individual presented with a normal phenotype. In addition, 3 unrelated cases had incomplete cleft palate, submucous cleft palate, and bifid uvula, respectively. There is strong evidence for reduced penetrance of the craniosynostosis trait in Muenke syndrome. We argue that many studies on Muenke syndrome have been influenced by ascertainment bias in regard to craniosynostosis. In addition, it is suggested that oral clefting might be part of the clinical spectrum seen in Muenke syndrome.

OriginalsprogEngelsk
TidsskriftCoronary Artery Disease
Vol/bind29
Udgave nummer1
Sider (fra-til)1-9
Antal sider9
ISSN0954-6928
DOI
StatusUdgivet - 2020

ID: 58279331