Mowat Wilson syndrome: systemic features
Evidence-based neurology checklist on mowat wilson syndrome: systemic features: Congenital heart defects Patent ductus arteriosus (PDA) Pulmonary stenosis and atresia Ventricular septal defect (VSD) Atrial septal defect (ASD) Tetralogy of Fallot (TOF) Coarctation of the aorta Aortic and mitral…
Congenital heart defects
- Patent ductus arteriosus (PDA)
- Pulmonary stenosis and atresia
- Ventricular septal defect (VSD)
- Atrial septal defect (ASD)
- Tetralogy of Fallot (TOF)
- Coarctation of the aorta
- Aortic and mitral valve anomalies
Ocular abnormalities
Urogenital abnormalities
Gastrointestinal abnormalities
Skeletal abnormalities
References
- Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007; 2:42.
- Garavelli L, Zollino M, Mainardi PC, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009; 149A:417-426.
- Ivanovski I, Djuric O, Caraffi SG, et al. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med 2018; doi: 10.1038/gim.2017.221 (Epub ahead of print).
- Ricci E, Fetta A, Garavelli L, et al. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy Behav 2021 (Online ahead of print).
- Bourchany A, Giurgea I, Thevenon J, et al. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. Am J Med Genet A 2015; 167:1587-1592.
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