Leslie Galloway

Vol. XIX No. 1Editor: Heather J. Stalker, M.Sc. Director: Roberto T. Zori, M.D.By: Carrie Crain, B.S. Introduction Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that affects many systems in the body. The majority of BWS cases, 85%, are sporadic and 15% are inherited in…

Vol. XXXVIII No. 1Editor: Heather J. Stalker, M.Sc. Director: Megan Boothe, M.DBy: Colleen Martin, BS Genetic Counseling Student, University of South Florida Introduction CASK-related disorders are a spectrum of X-linked neurodevelopmental conditions associated with intellectual disability, developmental delay, and neurologic abnormalities.1-3 These conditions are considered…

Vol. XXXVII No. 2Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Julia Piermattei, BS Genetic Counseling Student Medical University of South Carolina Introduction: Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by small size, delayed growth and development, distinctive physical features, and neurological…

Vol. XXXVI No. 1Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Resh Meck, BS Genetic counseling student University of Alabama Introduction Multiple Sulfatase Deficiency (MSD), also known as Austin disease, is a lysosomal storage disorder caused by the decreased or absent activity of two or…

Vol. XXXV No. 2Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Tristan Dorn, MD, MPH, University of Florida Introduction Propionic acidemia is the most common type of organic acidemia, but it is rare among all metabolic disorders. It is estimated to affect 1/20,000 to 1/250,000…

Vol. XXXVI No. 1Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Anna Li, MD, PGY-1, University of Florida Pediatrics Introduction Dravet Syndrome (DS), first described as severe myoclonic epilepsy of infancy (SMEI) by Charlotte Dravet in 1978, is a rare early childhood genetic syndrome characterized…

Vol. XXXV No. 1Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Jessica Stanton, Genetic Counseling Student, University of South Florida Coffin Siris Syndrome is a rare inherited genetic disorder that is characterized by intellectual disability, developmental delays, cardiac anomalies, feeding difficulties, underdeveloped or absent fifth…

Vol. XXXIV No. 2Editor: Heather J. Stalker, M.Sc.Director: Megan Boothe, M.DBy: Ashlyn Keziah, BS, Genetic counseling student, University of South Florida Mandibulofacial dysostosis with microcephaly (MFDM), also referred to mandibulofacial dysostosis Guion- Almeida type, is an autosomal dominant disorder characterized by various craniofacial malformations, malar…

Vol. XXXIII No. 2Editor: Heather J. Stalker, M.Sc.Director: Roberto T. Zori, M.D.By: Andrea Shields, MS, Genetic Counseling Student, University of South Florida Introduction Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder charactered by progressive weakness and loss of muscle resulting from the absence of…

Vol. XXXIII No. 2Editor: Heather J. Stalker, M.Sc.Director: Roberto T. Zori, M.D.By: Ashlyn Keziah, BS & Christy Saji Introducation In recent years, the landscape of healthcare and medicine has been rapidly evolving. Standardized solutions have given way to the new approach of personalized care. This…