Article
Muenke syndrome: An international multicenter natural history study.
American journal of medical genetics. Part A - 1 Apr 2016
Kruszka Paul, Addissie Yonit A, Yarnell Colin M P, Hadley Donald W, Guillen Sacoto Maria J, Platte Petra, Paelecke Yvonne, Collmann Hartmut, Snow Nicole, Schweitzer Tilmann, Boyadjiev Simeon A, Aravidis Christos, Hall Samantha E, Mulliken John B, Roscioli Tony, Muenke Maximilian
Abstract excerpt
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and...
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