Mulliken, Daniela Steinberger, Sabine Kunze and Ulrich Müller, Molecular Diagnosis of Bilateral Coronal Synostosis, Plastic and Reconstructive Surgery, 104, 6, (1603), (1999
Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Europ. J. Hum. Genet. 14: 39-48, 2006.
She was found to have bilateral coronal synostosis and midface hypoplasia without extremity anomalies. Diagnosis - Crouzon syndrome 50.