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 2017-11-18  Case of the week # 460  © Lusine Karapetyan
Answer to the case of the week # 460
December 7, 2017 - January 4, 2018

Lusine Karapetyan, MD.

Case report
A 21-year-old patient (G1P0) with unremarkable medical history and no consanguinity was referred to our unit for anomaly scan in the second trimester.  First trimester screening was done in the other unit and was reported to be normal.  

Our scanning revealed intrauterine growth restricted female fetus.  Additionally we detected micro-retrognathia, persistent left superior vena cava , inferior vena cava  interruption with hemiazygos vein continuation, hypoplastic  left  kidney and short big toe.  We suspected also large centrally located  liver , large gallbladder, dorsal position of the stomach and small splenium.
Fetal karyotyping revealed  partial trisomy 22 (cat eye syndrome or Schmid-Fraccaro syndrome )

Autopsy revealed large centrally located liver , small splenium, hypoplastic left kidney, abnormal anteriorly  located patent anus , absent nipples, hypertelorism, down slanting palpebral fissures, hypoplastic ear lobes, low-set ears, preauricular skin tag on the left side, atresia of the external auditory canals on the both sides, long philtrum, depressed nasal bridge, trilobed right lung and incomplete trilobed left lung, intestinal malrotation and  bicornuate uterus.

Images 1-3: 3D rendering images showing micro- retrognathia.


Images 4-7, videos 1-4: 2D and Doppler images show  echogenic focus in the left ventricle, dilated hemiazygos vein seen on the left side of the descending aorta and draining into the persistent left superior vena cava and hepatic veins entering to the right atrium and absent inferior vena cava.


Image 8:
2D image of the fetal abdomen shows left kidney smaller in comparison to the right one. 

Image 9, video 5: Doppler images show large symmetric liver, dorsally located stomach and large gallbladder .


Image 10, video 6: 
2D images show small big toe.


Images 11-13:
post-morten images.


Cat eye syndrome (CES) patients have variable clinical phenotype, ranging from mild disabilities to severe congenital malformations leading to early death. 
Individuals with CES are characterized by three main clinical features: preauricular pits and/or tags, anal atresia, and iris coloboma. However, many reported cases also feature congenital kidney abnormalities, congenital cardiac defects, intellectual disability, and growth delay. It has been observed that patients diagnosed with CES carry a small supernumerary  marker chromosome (sSMC)(3).
The malformations involve all systems and predominantly include cardiovascular system (anomalous pulmonary venous return, the tetralogy of Fallot, the ventricular septal defect, the persistence of the left superior vena cava, the absence of the inferior vena cava, tricuspid atresia); eye anomalies (coloboma, hypertelorism, down slanting palpebral fissures); ear anomalies (preauricular skin tags or fistulae, prominent antihelices, hypoplastic ear lobes and atresia of auditory canals); nasal malformations (broad and depressed nasal bridge, minimal epicanthal folds); gastrointestinal malformations (anorectal malformations) and urogenital malformations (kidney hypoplasia or aplasia, bladder fistula and hydronephrosis). The affected infants may have mild to moderate mental retardation, abnormal neurodevelopmental outcomes with growth retardation (2).


1. Berends M. J. W., Tan-Sindhunata G., Leegte B., van Essen A. J. Phenotypic variability of cat-eye syndrome. Genetic Counseling. 2001;12(1):23–34. [PubMed]

2. Schachenmann G, Schmid W, Fraccaro M, et al. Chromosomes in coloboma and anal atresia. Lancet 1965;2:290. [

3. D. Sharma, S. Murki, T. Pratap ,M Vasikarla Cat eye syndrome 2014 BMJ case report  PMC 4039909

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