Case report
29-year-old low risk patient underwent first trimester combined screening for fetal aneuploidies (ultrasound + maternal serum biochemistry). The test result was considered normal; ultrasound revealed no abnormalities.
Subsequent second trimester ultrasonographic examination revealed cerebral ventriculomegaly, micrognathia, suspected cleft lip/palate, IUGR, and ventricular septal defect of the heart. Due to the findings genetic amniocentesis was proposed to the patient. Classical cytogenetics (GTG banding) revealed normal female karyotype and had failed to explain the observed abnormalities. The patient came to our center for a second opinion scan, which revealed the following abnormalities:
- asymmetrical cerebral ventriculomegaly (incipient hydrocephaly);
- thin corpus callosum;
- delayed cortical folding;
- bilateral cataract;
- unilateral microphthalmia;
- weakly ossified cranial vault, with cranium bending under pressure;
- abnormal distribution of cranial sutures with atypical Wormian bones (located outside the posterior fontanelle, which is the most common normal variant);
- facial dysmorphism - hypertelorism, micrognathia, upturned nares, mouth held open (inability to close);
- heart axis rotated to the left;
- shortened long bones;
- oligodactyly, 4 metacarpal and 4 metatarsal bones, missing phalanges;
- missing clavicles.
Yunis-Varon syndrome (YVS, MIM # 216340) may be caused by mutations in the gene FIG4 (609,390) situated in the region 6q21. The incidence of this syndrome is not known, but it is very rare: in the literature fewer than 20 cases were reported.
The affected girl lived 9 days. The exact diagnosis was only set after birth by Dr Antoni Pyrkosz.
Images 1, 2, videos 1, 2, 3, and 4: Fetal eyes - hypertelorism, unilateral microphthalmia and bilateral cataract can be seen.