Emanuel syndrome

L Dudarewicz, J Jakubowski, W Hawula, M Kozlowska, U Laskowska, B Ramsauer, H Herbst, C Rickert

Lech Dudarewicz, MD1; J. Jakubowski, MD1; W. Hawula, MD1; M. Kozlowska, MD1; U. Laskowska, MD1.
B. Ramsauer, MD2; H. Herbst, MD2; C. Rickert, MD2.

1. Polish Mothers Hospital, Poland;
2. Vivantes Clinic, Berlin, Germany.

Case report

The patient with unremarkable anamnesis, including family history, biological and occupational exposure underwent the first trimester screening for Down syndrome with normal results. First ultrasonographic suspicion of a fetal anomaly was made at 21st week. The ultrasound revealed hypoplasia of the lower cerebellar vermis, bilateral markedly hypoplastic kidneys, micrognathia, small stomach with polyhydramnios, borderline IUGR, and later rocker-bottom feet.

The result of interphase FISH test for the common aneuploidies was normal. The result of GTG-banded karyotype was abnormal, discovering a supernumerary marker chromosome, whose identification was possible only after extensive testing at 24/25 weeks of gestation.

The abnormalities were confirmed at autopsy, with additional diagnosis of annular pancreas. The mother's karyotype was 46,XX,t(11;22)(q23;q11.2). Emanuel syndrome may occur in the offspring as the result of meiosis in carriers of 11;22 (q23;q11.2) translocation, which by the way is the most common balanced chromosomal translocation in humans.

Fetal karyotype was 47,XX,der(22)t(11;22)(q23;q11.2)mat,+22. ish der(22)t(11;22)(q23;q11.2)(D22S75+;SHANK3-), which corresponds to Emanuel syndrome.

Images 1, 2: First trimester ultrasonographic screening - normal nuchal translucency and normal tricuspid flow were observed.


Images 3.4, and video 1: 21 weeks of gestation; the images and video show lower cerebellar vermis hypoplasia.


Image 5 and video 2: 21 weeks of gestation; downturned mouth and micrognathia depicted in coronal plane.


Images 5, 6: 21 weeks of gestation; transverse scans of the fetal abdomen showing empty stomach and slightly larger gallbladder.


Images 7, 8, 9, and video 3: 21 weeks of gestation; the images and video show hypoplastic kidneys of the fetus.



Images 10, 11, and video 4: 21 weeks of gestation; the images and video show rockerbottom feet of the fetus.


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