European Journal of Radiology Extra 76 (2010) e65–e68 Contents lists available at ScienceDirect European Journal of Radiology Extra journal homepage: intl.elsevierhealth.com/journals/ejrex A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies Manish G. Shah a , Arie Franco a,∗ , Kelly M. Wills b , Anita S. Kulharya c , Bradley S. Buckler c , Jatinder J.S. Bhatia c a Department of Radiology, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912, United States b Medical College of Georgia, 1120 15th Street, Augusta, GA 30912, United States c Department of Pediatrics, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912, United States article info Article history: Received 23 June 2010 Received in revised form 5 August 2010 Accepted 11 August 2010 Keywords: Monosomy 21 Inferior vena cava Arthrogryposis abstract We report a rare case of a newborn with complete monosomy 21 prenatally diagnosed in the amni- otic fluid and subsequently confirmed in other tissues. Patient presented with multiple osseous, cardiac, and vascular anomalies. Cardiac anomalies included large atrial septal defect, ventricular septal defect, aneurysm of the left pulmonary artery and patent ductus arteriosus with large bidirectional shunt. Inter- ruption of the inferior vena cava was noted. Although interrupted inferior vena cava associated with cardiac anomalies was previously reported, it has not been reported in association with monosomy 21. © 2010 Elsevier Ireland Ltd. All rights reserved. 1. Introduction In the spectrum of partial to complete monosomy 21, phe- notypic presentations include peculiar facies, antimongoloid eye slants, prominent occiput, low set ears, flat nose bridge, hypotonia, and psychomotor retardation [1,2]. Osseous and cardiac anoma- lies were previously described; however, a case with interrupted inferior vena cava (IVC) was never described. Very few cases of monosomy 21 are reported to our knowl- edge. The majority is due to partial deletion or to mosaicism of chromosome 21 [3,4]. A more recent description of full monosomy 21 has been described [5]. We present a rare case of complete absence of the chromosome associated with osseous, cardiac, and vascular anomalies, confirmed by fluorescence in situ hybridiza- tion (FISH) analysis and array comparative genomic hybridization (a-CGH). 2. Case report A term male infant with intrauterine growth retardation was delivered by caesarian section due to breech presentation to an 18- year-old G1 mother. The infant weighed 1725 g. Antenatal amniotic fluid examination revealed monosomy 21. ∗ Corresponding author. Tel.: +1 706 721 3214. E-mail address: afranco@mcg.edu (A. Franco). After birth, the patient developed respiratory distress and required positive pressure ventilation and was transferred to neonatal intensive care unit. On initial physical exam, the patient was noted to have low set ears, thin upper lip and thickened palate, and microcephaly with ovoid-shaped skull. There were multiple deformities of the lower extremities including arthro- gryposis, and bilateral rocker-bottom feet (Fig. 1). A third nipple and epithelialized abdominal wall defect to the left of the umbili- cus was also palpated. Cardiac examination revealed a 2/6 systolic murmur. Frontal radiograph of the chest and abdomen demonstrated multiple osseous deformities including segmentation and forma- tion errors of the spine with multiple hemi vertebrae of the thoracic and lumbar spine and scoliosis centered in the mid thoracic spine. There were asymmetric rib pairs with ten right ribs and eleven left ribs. There was bilateral dislocated hips, absence of the left pubic bone and the left ischial bone. The left iliac bone was hypoplas- tic. The knees were subluxed. The fibulae were subluxed and the femora were thin. Bowed proximal tibiae were noted. Dorsiflex- ion of the feet and ankles noted consistent with rocker-bottom deformity (Fig. 2). A transthoracic echocardiogram showed large ostium secun- dum atrial septal defect, small anterior muscular ventricular septal defect, aneurysm of the left pulmonary artery, patent ductus arteriosus with large bidirectional shunt and diminished left ven- tricular systolic function. The superior vena cava was right-sided and drained normally to the right atrium. The inferior vena cava 1571-4675/$ – see front matter © 2010 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ejrex.2010.08.006