Abstract
Smith-Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypo...Continue Reading
References
Jul 1, 1986·American Journal of Medical Genetics·A C SmithE Magenis
Mar 29, 1996·American Journal of Medical Genetics·F GreenbergJ R Lupski
Nov 20, 1998·Trends in Genetics : TIG·J R Lupski
Jun 14, 2000·Journal of Medical Genetics·L PotockiJ R Lupski
Jul 11, 2001·The Journal of Pediatrics·H De LeersnyderA Munnich
Jan 15, 2003·Journal of Medical Genetics·H De LeersnyderA Munnich
Mar 26, 2003·Nature Genetics·Rebecca E SlagerSarah H Elsea
Jun 18, 2003·Molecular Genetics and Metabolism·Christopher N VlangosSarah H Elsea
Nov 14, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lorraine PotockiJames R Lupski
Nov 27, 2004·Human Genetics·Weimin BiJames R Lupski
Aug 8, 2006·Trends in Endocrinology and Metabolism : TEM·Hélène De Leersnyder
Jan 31, 2008·European Journal of Human Genetics : EJHG·Sarah H Elsea, Santhosh Girirajan
Feb 25, 2009·Clinical Genetics·S GirirajanS H Elsea
Jun 17, 2009·American Journal of Medical Genetics. Part a·Eilis A BoudreauR Ellen Magenis
Oct 12, 2010·BMC Medical Genetics·Hoa T TruongSarah H Elsea
Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gonzalo LajeAnn C M Smith
Apr 12, 2011·American Journal of Medical Genetics. Part a·Gustavo H VieiraAnand K Srivastava
May 7, 2011·Expert Reviews in Molecular Medicine·Sarah H Elsea, Stephen R Williams
Jul 9, 2011·American Journal of Medical Genetics. Part a·Philip M BooneLorraine Potocki
Aug 23, 2011·PloS One·Thierry VilbouxMarjan Huizing
Sep 8, 2011·European Journal of Human Genetics : EJHG·Gustavo H VieiraAnand K Srivastava
Nov 8, 2011·Genetics and Molecular Research : GMR·B F GambaD Morreti-Ferreira
May 15, 2012·American Journal of Human Genetics·Stephen R WilliamsSarah H Elsea
Dec 2, 2014·Neuroscience Letters·Laurence KocherBruno Claustrat