2024/12/31 by H JILANI., C SABAN, I REJEB +7
#7DHCR gene #Smith-Lemli-Opitz syndrome #SyndromedeSmith-Lemli-Opitzsyn- drome #gène7DHCR #pyloric stenosis #sténosehypertrophiquedupy- lore
paper · doi:10.71566/pist-rmp-194961
Background : Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by development delay, intrauterine growth retardation and awild spectrum of congenital malformations. It is caused by mutationsinthe7-dehydrocholesterolreductase(7DHCR)genewhichresultsinabnormalityofcholesterol metabolism. Case presentation : We reportthe first case ofaTunisian patientwith SLOS. The diagnosiswas suspected bythedysmorphicfeatures(widenasalbridge,antevertednares,retrognatia,posteriorcleftpalate),the bilateralsyndactylyof2ndand3rdtoesandtheabnormalgenitalia. Itwasconfirmedbyahighserumle- vel of7-dehydrocholesterol and lowlevel ofcholesterol. The patient had amoderate severityscorethat matches with the cholesterol level and the dehydrocholesterol fraction. A hypothyroidism, which is not frequent in SLOS, was present. Conclusion:SLOSisaseverecongenitaldisorderwhichhasamajorphenotypicheterogeneity. Itshould be suspected when striking features are found. Molecular study of the 7DHCR gene is not essential for diagnosis but can be very useful for prenatal diagnosis.