title: [Microphthalmos and hypertelorism as diagnostic index in ultrasound diagnosis of Fraser syndrome].
abstract: Fraser syndrome is a rare genetic syndrome with abnormalities of the head, lungs, kidneys, and limbs. A prenatal diagnosis of FS can be done in families with risk, using foetal ultrasonography. However, a wide qualitative and quantitative variability of possible abnormalities makes the diagnosis in utero notably questionable. We present the results of foetal ultrasonography in a tertigravida, had delivered two children with FS. Signs of foetal hypertelorism and microphthalmia, both traits typical for FS, were detected based on outer and inner orbital diameters and ocular diameters in 28 and 32 weeks of pregnancy. The clinical and pathological examinations after birth confirmed the diagnosis of FS. Our observation suggests that eye anomalies may prompt the diagnosis of FS even if characteristic lung and kidney abnormalities are absent. Therefore, we propose to regularly assess eye dimensions and distance, when performing any foetal ultrasonography in families with of FS.
authors.affiliation: Zakład Genetyki Klinicznej AM w Białymstoku.
authors.forename: Ryszard
authors.initials: R
authors.lastname: Leśniewicz
authors.forename: Marian
authors.initials: M
authors.lastname: Sulik
authors.forename: Alina T
authors.initials: AT
authors.lastname: Midro
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002899:Chromosomes, Human, Pair 9; D004423:Ear / Q000002:abnormalities / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000000981:diagnostic imaging; D005143:Eyelids / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging* / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D007830:Larynx / Q000002:abnormalities / Q000473:pathology; D008168:Lung / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography