[PDF] Smith Magenis Syndrome

Smith Magenis Syndrome

Smith-Magenis Syndrome by Dr Orlee Udwin

Smith-Magenis syndrome is a rare, genetically determined conditions with an assumed prevalence of 1 in 25 000 live births, an equal sex ratio and an association with learning disabilities, mostly in the mild to severe range

Le syndrome de Smith- Magenis - Orphanet

Le syndrome de Smith-Magenis La maladie Le diagnostic Les aspects génétiques Le traitement, la prise en charge, la prévention Vivre avec En savoir plus Madame, Monsieur : Cette fiche est destinée à vous informer sur le syndrome de Smith-Magenis Elle ne se substitue pas à une consultation médicale Elle a pour but de

Neurologic and Developmental Features of the Smith-Magenis

Smith-Magenis Syndrome (del 17p11 2) Andrea L Gropman, MD*† Wallace C Duncan, PhD‡ and Ann C M Smith, MA, DSc (Hon)§ The Smith-Magenis syndrome is a rare, complex mul-tisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozy-gous interstitial deletion of chromosome 17p11 2 The

Smith-Magenis syndrome and growth hormone deficiency

Smith-Magenis syndrome and growth hormone deficiency Received: 16 October 2003/ Revised: 22 March 2004/ Accepted: 23 March 2004/Published online: 8 May 2004 Springer-Verlag 2004 Abstract Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome including physical and neurobehavioural features The

SÍNDROME DE SMITH-MAGENIS

SÍNDROME DE SMITH-MAGENIS B Gener Unidad de Genética Clínica Hospital de Cruces Baracaldo, Vizcaya Gener B, Síndrome de Smith-Magenis Protoc diagn ter pediatr 2010;1:37-43 INTRODUCCIÓN El síndrome de Smith-Magenis (SMS) (OMIM 182290) consiste en un cuadro que cursa con retraso mental de gravedad variable junto con

121 RAI1, the Smith–Magenis, and Potocki–Lupski Syndromes

121 RAI1, the Smith–Magenis, and Potocki–Lupski Syndromes WEIMIN BI AND JAMES R LUPSKI S mith–Magenis syndrome (SMS; MIM 182290) is a multiple congenital anomalies/mental retardation disorder with character-istic craniofacial and neurobehavioral features including sleep dis-turbance, self-injurious behaviors, and stereotypical behaviors