title: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.
abstract: Splenogonadal fusion limb defect syndrome (SGFLD) is a very rare abnormality. We report on a case with prenatal sonographic findings of a fetus with postnatally diagnosed SGFLD syndrome. This is also the second case of prenatal ultrasonographic diagnosis of gastrointestinal malrotation associated with SGFLD. A 26-year-old primigravid woman was referred to our clinic because of nonvisualization of both fetal femoral bones at 20 weeks of gestation. A detailed sonographic examination showed complete bilateral absence of lower limbs, micrognathia, single umbilical artery and a right-sided stomach. Autopsy confirmed prenatal sonographic findings and additionally showed that the spleen was abnormally connected to the left gonad by a fibrous band. In conclusion, although all limbs and both sides were equally affected in most of the reported cases, SGFLD syndrome should be considered in cases with terminal limb defects of lower limbs.
authors.affiliation: Department of Obstetrics and Gynecology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Basbug
authors.forename: Hulya
authors.initials: H
authors.lastname: Akgun
authors.forename: Mahmut Tuncay
authors.initials: MT
authors.lastname: Ozgun
authors.forename: Cagdas
authors.initials: C
authors.lastname: Turkyilmaz
authors.forename: Cem
authors.initials: C
authors.lastname: Batukan
authors.forename: Bulent
authors.initials: B
authors.lastname: Ozcelik
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology; D000025:Abortion, Eugenic; D000328:Adult; D001344:Autopsy; D004480:Ectromelia / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D006066:Gonads / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000196:embryology; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013154:Spleen / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000196:embryology; D016216:Ultrasonography, Prenatal