Título: Rubinstein-Taybi Syndrome; A Case Report
Autores: SORKHI, Hadi; Associate Professor of Nephrology, Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran
ASGHARI VOSTACOLAEE, Yasser; General Physician, Babol University of Medical Sciences, Babol, Iran
GHABELI JUIBARI, Ali; General Physician, Babol University of Medical Sciences, Babol, Iran
Fecha: 2011-05-23
Publicador: Iranian Journal of Child Neurology
Fuente:
Tipo: info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Case reports

Tema: No aplica
Descripción: ObjectiveRubinstein-Taybi Syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. Systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. This syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingCREB-binding protein gene (CREBBP). We report a 15-years-old girl, a knowncase of chronic renal failure, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus,dental anomalies, large toes, broad thumbs, and mental retardation.Key words: Rubinstein-Taybi syndrome; chromosome 16p 13.3; mentalretardation; CBP gene.    
Idioma: Inglés

Artículos similares:

EFFECTS OF ORAL IRON SUPPLEMENT ON BREATH-HOLDING SPELLS IN CHILDREN por TONEKABONI MD, S.H.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,ALAVI MD, S.; Assisstant professor ,Shaheed Beheshti Medical Sciences University, Mofid Children’s Hospital,MAHVELATI MD, F.; Pediatric Neurologist, Assistant Professor of Shaheed Beheshti University of Medical Sciences Child neurology department, Mofid Children’s Hospital,TABASI MD, Z.; Pediatrician
A STUDY ON THE RISK FACTORS FOR OBSTETRICAL BRACHIAL PLEXUS PALSY por ASHRAFZADEH, Farah; Professor of Pediatric Neurology Mashhad University of Medical Sciences, Mashhad, Iran,BOSKABADI, Hasan; Associate Professor of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran,FARAJI RAD, Mohammad; Professor of Neurosurgery Mashhad University of Medical Sciences, Mashhad, Iran,SEYYED HOSSEINEE, Parisa; Medical student, Mashhad University of Medical Sciences, Mashhad, Iran
Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia por BARZEGAR, Mohammad; Professor of pediatric Neurology, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran,SAYADNASIRI, Mohammad; Assistant professor of Neurology, Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran,TABRIZI, Aidin; Pediarician, Pediatric Health Research Center, Tabriz University of Medical Sciences,Tabriz, Iran
Role and Function of Mitochondria por ZAMANI, Gholamreza; Pediatric Neurology Department, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Lysosomal Storage Disease in Iran (Report of Molecular Study) por HOUSHMAND, Massoud; 1. Assistant Professor of Human Molecular Genetics, Department of Medical Genetic, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran,TONEKABONI, Seyed Hassan; 2.Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,KARIMZADEH, Parvaneh; Professor of Pediatric Neurology, Pediatric Neurology Research Center, Shahid Beheshti University of Medical sciences,Tehran, Iran,ARYANi, Omid; Genetic Counselor, Medical Genetic Dep. Special Medical Center, Tehran, Iran,ASHRAFI, Mahmoudreza; Professor of Pediatric Neurology, Growth and Development Research Center, Children´s Medical Center, Tehran University of Medical Science, Tehran, Iran,SALEHPOUR, Shadab; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,BADV, Shervin; Assistant Professor of Pediatric Neurology, Zanjan University of Medical Sciences, Zanjan, Iran,SHAKIBA, Marjan; Associate Professor of Pediatric Endocrinology and Metabolism, Shahid Beheshti University of Medical Sciences, Tehran, Iran,ALAEE, Mohammad Reza; Associate Professor of Endocrinology, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran,FARSHIDI, Shahla; Nasle Omid Hope Foundation
GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE por Shamsian MD, B.Sh.; Assistant professor, Department of pediatric hematology-oncology,Mofid children's hospital,Shaid BEheshti Medical University,Arzanian MD, M.T.; Assistant professor ,Cheif of hematology-oncology ward, Department of pediatric hematology-oncology, Shaid Beheshti Medical University,Alavi MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences,Zareifar MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences
Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report por SHERVIN BADV, Reza; 1. Pediatric Neurologist, Department of Pediatrics, Zanjan University of Medical Sciences, Zanjan, Iran,NIKSIRAT, Ali; 2. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
ETHYLMALONIC ACIDURIA AND REPORT OF ONE CASE FROM IRAN por KARIMZADEH, Parvaneh; Associate Professor of Pediatric Neurology, Pediatric Neurology Research Center, ShahidBeheshti University of Medical Sciences, Mofid Children Hospital, Tehran, Iran
NEONATAL SEIZURE: ETIOLOGY AND TYPE por Moayedi, A.R.; Pediatric Neurologist,Assistant Professor, Hormozgan University of Medical Sciences,Bandar Abbas,Zakeri, S.; Pediatrician, Hormozgan University of Medical Sciences,Moayedi, F.; General Physician
10 
EFFECT OF SENSORY INTEGRATION THERAPY ON GROSS MOTOR FUNCTION IN CHILDREN WITH CEREBRAL PALSY por Shamsoddini, A.R.; Master of Occupational therapy, Baqiyatallah university of Medical Sciences, Medical Faculty.,Hollisaz, M.T.; Professor of Physical Medicine and Rehabilitation, Baqiyatallah university of Medical Sciences, Medical Faculty.