Brooklyns Beautiful Life with Crouzon Syndrome

>> YOUR LINK HERE: ___ http://youtube.com/watch?v=9d6amvBrPag

Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with 22q11.2 Deletion Syndrome Patients, provides an overview of the genetic causes and medical issues associated with Chromosome 22q11.2 Deletion Syndrome as well as ways in which they can be addressed. • 0:00 Introduction • 1:14 Kathy Angkustsiri, M.D. Developmental Pediatrician • 3:23 Fluorescence In Situ Hybridization (FISH) • 5:23 The Heran Family • 7:30 Short Philtrum • 7:34 Long Tubular Nose • 7:37 Puffy Hooded Eyelids Narrow Palprebral Fissues • 7:43 Hypertelorism • 7:52 Facial Assymmetry • 8:20 The Clark Family • 9:38 Gastroesophageal Reflux Disease (GERD) • 9:59 Nissen Fundoplication • 10:06 Gastrostomy Tube (G-Tube) • 11:19 Otolaryngologist (ear/nose/throat doctor) • 11:26 A Nasopharyngoscope • 11:31 Submucous Cleft Palate • 11:40 Bifid (Split) Uvula • 11:59 Pressure Equalization Tube • 12:18 Velopharyngeal Dysfunction (VPD) • 13:50 Autoimmune Thrombocytopenia (low platelet count) • 13:54 Hematologist • 14:00 Small End of Growth Curve • 14:18 Hypotonia (low muscle tone) • 14:28 Leg Pain • 14:39 Scoliosis • 15:28 Echocardiogram • 15:37 Electrocardiogram (EKG) • 16:25 Tortuous Vessels • 16:30 Strabismus (Lazy Eye) • 16:35 Feeding Therapist • 16:51 Abnormalities can be referred to an immunologist • 17:06 Thyroid Function Test (TSH, FREE T4) • 17:17 Thyroid Parathyroid • 17:20 Growth Hormone • 17:24 Obtain a baseline kidney ultrasound • 17:28 Take C-Spine X-Rays after 4 years • 17:45 Occupational Therapists • The UC Davis MIND Institute in Sacramento, Calif. is a unique, interdisciplinary research, clinical, and education center committed to deepening scientific understanding of autism and other neurodevelopmental conditions. It is a highly collaborative center, bringing together families, researchers, clinicians, community leaders and volunteers with the common goal of developing more personalized, equitable, and scientifically proven systems of support and intervention. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention deficit/hyperactivity disorder (ADHD) and Down syndrome. • • UC Davis MIND Institute: https://health.ucdavis.edu/mind-insti... • MIND Institute clinic: https://health.ucdavis.edu/mind-insti... • MIND Institute research: https://health.ucdavis.edu/mind-insti... • Mind Institute Resource Center: https://health.ucdavis.edu/mind-insti... • See the latest news from UC Davis Health: https://health.ucdavis.edu/newsroom • • Facebook: / ucdmind • Instagram: / ucdavismind • Twitter/X: / ucdmindinst • YouTube: / @ucdavismindinstitute • LinkedIn: / uc-davis-mind-institute

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