Koolen-de Vries syndrome: systemic features
Evidence-based neurology checklist on koolen-de vries syndrome: systemic features: Congenital heart defects Atrial septal defects (ASD) Ventricular septal defect (VSD) Patent ductus arteriosus (PDA) Patent foramen ovale (PFO) Aortic, pulmonary and mitral valve abnormalities Ectodermal…
Congenital heart defects
- Atrial septal defects (ASD)
- Ventricular septal defect (VSD)
- Patent ductus arteriosus (PDA)
- Patent foramen ovale (PFO)
- Aortic, pulmonary and mitral valve abnormalities
Ectodermal abnormalities
Ocular features
Urogenital features
Ocular congenital malformations
Musculoskeletal features
References
- Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008; 45:710-720.
- Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME. Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). Am J Med Genet 1997; 71:275-279.
- Wray CD. 17q21.31 microdeletion associated with infantile spasms. Eur J Med Genet 2013; 56:59-61.
- Sharkey FH, Morrison N, Murray R, et al. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Cytogenet Genome Res 2009; 127:61-66.
- Koolen DA, Pfundt R, Linda K, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet 2016; 24:652-659.
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