Article
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Weiss Karin, Kruszka Paul, Guillen Sacoto Maria J, Addissie Yonit A, Hadley Donald W, Hadsall Casey K, Stokes Bethany, Hu Ping, Roessler Erich, Solomon Beth, Wiggs Edythe, Thurm Audrey, Hufnagel Robert B, Zein Wadih M, Hahn Jin S, Stashinko Elaine, Levey Eric, Baldwin Debbie, Clegg Nancy J, Delgado Mauricio R, Muenke Maximilian
Abstract excerpt
PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Clinical assessments included dysmorphology exams, cognitive testing, swallowing studies, ophthalmic examination,...
Topics
- Adolescent
- Adult
- Facies
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Holoprosencephaly