Search :     

2015-07-20-22 Answer to the case of the week #400 © Dudarewicz 

Answer to the case of the week #400

July 30, 2015 - August 13, 2015

Lech Dudarewicz, MD, PhD1; Antoni Pyrkosz MD, PhD2; Lucjusz Jakubowski, MD, PhD1.

1. Polish Mother's Memorial Hospital, Department of Genetics, 281/289 Rzgowska St. 93-338 Lodz, Poland; Ph: 48 42 271 11 83;
2. Medical University of Silesia in Katowice; Department of General and Molecular Biology and Genetics, Katowice, Upper Silesia, Poland.

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.




Images 3, 4, videos 5, 6: Fetal profile - micrognathia, constantly opened mouth, and suspected cleft palate was seen.



Image 5, videos 7, 8: Transverse scans of the fetal head with asymmetric cerebral ventriculomegaly.


Images 6, 7, videos 9, 10: The images and videos show fetal foot with oligodactyly.



Images 8, 9, 10, videos 11, 12, 13: The images and videos show fetal hands with oligodactyly and missing distal phalanges.



Image 11 and video 14: Transverse view of the shoulders at the level of the cervico-thoracic spine - clavicles of the fetus are missing anteriorly.


Image 12 and video 15: Transverse view at the level of stomach and spleen showing small spleen cyst.


Image 13: Transverse view of the fetal chest at the level of the four chamber view of the heart. Axis of the heart is markedly deviated to the left and ventricular septal defect was also suspected.

Image 14: Biometry of the fetus - shortened long bones and overall slight intrauterine growth retardation was present.

Images 15-26: Postnatal images of the newborn with Yunis-Varon syndrome.







Back to case
Help Support :