en علوم پایه پزشکی Basic medical sciences گزارش مورد Case report <span style="font-size:11pt"><span style="line-height:200%"><span style="text-autospace:none"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Background: </span></span></span></b><a name="_Hlk100479026"><span style="font-size:12.0pt"><span style="background:white"><span style="line-height:200%"><span new="" roman="" style="font-family:" times=""><span style="color:black">St&uuml;ve-Wiedemann syndrome (STWS) </span></span></span></span></span></a><span style="font-size:12.0pt"><span style="background:white"><span style="line-height:200%"><span new="" roman="" style="font-family:" times=""><span style="color:black">is an extremely uncommon disorder, </span></span></span></span></span><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">which results in bent-bone dysplasia and dysfunction of the autonomic nervous system that controls involuntary processes, such as body temperature and breathing. In infants, this can result in respiratory distress, feeding and swallowing problems, and hyperthermic episodes. While STWS usually leads to infant mortality, some STWS patients might survive into early adulthood. The condition is caused by a mutation in the leukemia inhibitory factor receptor (<i>LIFR</i>) gene, which is inherited in an autosomal-recessive pattern. In this paper, we present a very rare case of STWS in Qatar.</span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:200%"><span style="text-autospace:none"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Case description: </span></span></span></b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">The case was a female baby with the features of STWS. The parents were known carriers of this syndrome with a history of a previous child with the same condition. The baby was the product of a consanguineous marriage. After delivery, the diagnosis of STWS was confirmed by clinical features and genetic testing. Consultation with the related subspecialties was requested for the management of the case.</span></span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:200%"><span style="text-autospace:none"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">Conclusion: </span></span></span></b><span style="font-size:12.0pt"><span style="line-height:200%"><span new="" roman="" style="font-family:" times="">STWS is a rare disorder accompanied by bent-bone dysplasia and autonomic dysfunction that is generally caused by the autosomal recessive inheritance of a mutated <i>LIFR</i> gene. The symptoms of STWS are the result of a lack of LIFR signaling. There is currently no treatment available for STWS, but the symptoms are managed accordingly.</span></span></span></span></span></span></span> Anomalies,Autosomal recessive,Bent bone dysplasia,Stüve-Wiedemann syndrome, 27 29 http://jcbr.goums.ac.ir/browse.php?a_code=A-10-175-3&slc_lang=en&sid=1 sabry nasr ahmed sabrynasraly@yahoo.com 10031947532846004570 10031947532846004570 Yes Department of Neonatology, Women Wellness and Research Centre, Hamad Medical Corporation, Critical Care Department, Doha, Qatar hussain parappil hparapill1@hamad.qa 10031947532846004571 10031947532846004571 No Department of Neonatology, Women Wellness and Research Centre, Hamad Medical Corporation, Critical Care Department, Doha, Qatar