Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis

A González‐del Angel… - American Journal of …, 2016 - Wiley Online Library
Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with
variable extracranial anomalies. We studied 56 unrelated patients with non‐syndromic uni …

Significant phenotypic variability of Muenke syndrome in identical twins

LF Escobar, AK Hiett… - American Journal of …, 2009 - Wiley Online Library
Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is
an autosomal dominant condition which can be distinguished from the more common forms …

Muenke syndrome

G Sabatino, F Di Rocco, G Zampino, G Tamburrini… - Child's Nervous …, 2004 - Springer
Background Muenke syndrome is a genetically determined craniosynostosis that involves
one or both coronal sutures. In some patients it is associated with skeletal abnormalities …

Phenotypic variability in Muenke syndrome—observations from five Danish families

L Öwall, S Kreiborg, M Dunø, NV Hermann… - Clinical …, 2020 - journals.lww.com
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 …

Muenke syndrome: An international multicenter natural history study

P Kruszka, YA Addissie, CMP Yarnell… - American journal of …, 2016 - Wiley Online Library
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture
craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and …

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

CN Murali, DM McDonald‐McGinn… - American Journal of …, 2019 - Wiley Online Library
Abstract Muenke syndrome (MIM# 602849), the most common syndromic craniosynostosis,
results from the recurrent pathogenic p. P250R variant in FGFR3. Affected patients exhibit …

Muenke syndrome

BD Solomon, M Muenke - Craniosynostoses, 2011 - karger.com
Muenke syndrome is defined by the presence of the p. P250R mutation in FGFR3, and is an
autosomal dominant disorder with incomplete penetrance and variable expressivity. Typical …

A Korean family with the Muenke syndrome

JE Yu, DH Park, SH Yoon - Journal of Korean medical …, 2010 - synapse.koreamed.org
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis,
midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated …

Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis

A Ranger, N Chaudhary, J Rau, D Matir… - Journal of Craniofacial …, 2011 - journals.lww.com
Background: Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated
coronal craniosynostosis syndrome, which was first described in 1997. Case: We report an …

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

ES Doherty, F Lacbawan, DW Hadley… - American Journal of …, 2007 - Wiley Online Library
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture
craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the …