Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis.
The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them. Although the prenatal diagnosis of SLOS presents a challenge due to the fact that little is known about its prenatal phenotype but it may be vital while attempting to treat the fetus in utero.
Agata
A
Szpera-Goździewicz
Mariola
M
Ropacka-Lesiak
Paweł
P
Rzymski
Grzegorz H
GH
Bręborowicz
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal / Q000379:methods*
Smith-Lemli-Opitz Syndrome; prenatal diagnosis; ultrasound