دوره 6، شماره 3 - ( 9-1401 )
جلد 6 شماره 3 صفحات 29-27 |
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ahmed S N, parappil H. Stüve-Wiedemann syndrome (A very rare case in Qatar). jcbr 2022; 6 (3) :27-29
URL: http://jcbr.goums.ac.ir/article-1-374-fa.html
URL: http://jcbr.goums.ac.ir/article-1-374-fa.html
Stüve-Wiedemann syndrome (A very rare case in Qatar). Journal of Clinical and Basic Research. 1401; 6 (3) :27-29
چکیده: (955 مشاهده)
Background: Stüve-Wiedemann syndrome (STWS) is an extremely uncommon disorder, 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 (LIFR) gene, which is inherited in an autosomal-recessive pattern. In this paper, we present a very rare case of STWS in Qatar.
Case description: 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.
Conclusion: 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 LIFR 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.
Case description: 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.
Conclusion: 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 LIFR 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.
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علوم پایه پزشکی
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