Posts Tagged ‘factsheet’

Factsheet about Hypotonia

For a printable version please see: MUSCULOSKELETAL ANOMALIES MUSCULOSKELETAL ANOMALIES IN CHARGE SYNDROME: FOR THE PHYSICIAN Marc S. Williams, M.D., Department of Pediatrics, Gundersen Lutheran Medical Center, 1836 South Ave., LaCrosse, WI 54601 mwilliam@gundluth.org (608)782-7300 X2363 TYPE AND FREQUENCY OF MUSCULOSKELETAL ANOMALIES IN CHARGE SYNDROME ◆ Prevalence of musculoskeletal anomalies is between 30 – 50%. This […]

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Factsheet About Coloboma of the Eye

For a printable version of this page see: Factsheet About Coloboma of the Eye THE EYES IN CHARGE: FOR THE OPHTHALMOLOGIST Roberta A. Pagon, M.D. Division of Medical Genetics, CH-25, Children’s Hospital /Medical Center, Box C5371, Seattle, WA 98105-0371 bpagon@u.washington.edu (206) 526-2056 OPHTHALMOLOGIC ANOMALIES SEEN IN CHARGE Coloboma (80-90%) Iris Retina Optic Nerve Microphthalmia Facial nerve […]

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Factsheet about Choanal Atresia or Stenosis

For a printable version of this page see: Factsheet about Choanal Atresia or Stenosis CHOANAL ATRESIA IN CHARGE SYNDROME: FOR THE PHYSICIAN Bryan D. Hall, M.D. Dept. Pediatrics/Genetics, University of Kentucky Medical Center, 740 Limestone, Lexington KY 40536-0284 bdh@pop.uky.edu (859) 257-5559 ANOMALIES SEEN IN CHARGE A little more than 50% of children with CHARGE have some […]

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Factsheet about CHARGE Outer Ear

For a printable version of this page see: Factsheet about CHARGE Outer Ear THE EARS IN CHARGE – FOR THE PHYSICIAN Sandra L.H. Davenport, M.D. SensoryGenetic/Neuro-development, 5801 Southwood Drive, Bloomington MN 55437-1739 952-831-5522 slhdaven@tc.umn.edu Udayan K. Shah, M.D. Pediatric Otolaryngology, Children’s Hospital of Philadelphia, Philadelphia, PA (215) 590-3064 shah@email.chop.edu I. Outer ears & canals A. Distinctive […]

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Factsheet About CHARGE Middle Ear

For a printable version of this page see: Factsheet about CHARGE Middle Ear THE EARS IN CHARGE – FOR THE PHYSICIAN Sandra L.H. Davenport, M.D. SensoryGenetic/Neuro-development, 5801 Southwood Drive, Bloomington MN 55437-1739 952-831-5522 slhdaven@tc.umn.edu Udayan K. Shah, M.D. Pediatric Otolaryngology, Children’s Hospital of Philadelphia, Philadelphia, PA (215) 590-3064 shah@email.chop.edu I. Outer ears & canals A. Distinctive […]

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Factsheet About CHARGE Inner Ear

For a printable version of this page see: Factsheet about CHARGE Inner Ear THE EARS IN CHARGE – FOR THE PHYSICIAN Sandra L.H. Davenport, M.D. SensoryGenetic/Neuro-development, 5801 Southwood Drive, Bloomington MN 55437-1739 952-831-5522 slhdaven@tc.umn.edu Udayan K. Shah, M.D. Pediatric Otolaryngology, Children’s Hospital of Philadelphia, Philadelphia, PA (215) 590-3064 shah@email.chop.edu I. Outer ears & canals A. Distinctive […]

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Factsheet about Swallowing and Feeding

For a printable version of this page see: Factsheet about Swallowing and Feeding SWALLOWING AND FEEDING IN CHARGE SYNDROME: FOR THE PHYSICIAN Veronique. Abadie, M.D., Ph.D. Pediatrie Generale Unit, H6pital Necker-Enfants Malades, 149 rue de Sevres, Paris, 75015 France phone 00-33-144495211 veronique.abadie@nck.ap-hop-paris.fr ANOMALIES SPECIFIC TO CHARGE Swallowing difficulties, one of the major features of CHARGE syndrome, […]

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Factsheet about Cranial Nerve Abnormalities

For a printable version please see: Factsheet about Cranial Nerve Abnormalities THE BRAIN IN CHARGE SYNDROME: FOR THE NEUROLOGIST Bruce R. Korf, M.D., Ph.D. Medical Director, Harvard-Partners Center for Genetics and Genomics 77 Ave Louis Pasteur, Suite 642, Boston, MA 02115 bkorf@partners.org (617) 525-5750 Brain anomalies seen in CHARGE Cranial nerve anomalies (70-90%) I – olfactory […]

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