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   an 11-year-old girl with rare diagnosis of meier-gorlin syndrome accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder: a case report and review of literature  
   
نویسنده koomanaee shahin ,dalili setila ,hoseini nouri azade ,jalali zohreh ,tabrizi manijeh ,aldaghi ghazaleh ,hassanzadeh rad afagh
منبع acta medica iranica - 2022 - دوره : 60 - شماره : 9 - صفحه:599 -603
چکیده    Meier-gorlin syndrome (mgs) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (orc1, orc4, orc6, cdt1, and cdc6). this syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. this case report describes the first persian mgs accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.
کلیدواژه meier-gorlin syndrome; seizures; intellectual disability; neonatal seizure; attention deficit disorder with hyperactivity
آدرس guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran, guilan university of medical sciences, pediatric diseases research center, iran
پست الکترونیکی afaghrad@gums.ac.ir
 
     
   
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