Author + information
Edward-Klinefelter syndromes are caused by double aneuploidy of chromosome 18 and sex chromosome X (48 XXY +18). The aim of the study was to improve the recognition of congenital heart defects of liveborn Edwards-Klinefelter syndromes.
We presented one case of Edwards-Klinefelter syndromes and relevant literature liveborn Edwards-Klinefelter syndromes were reviewed. The congenital heart defects and other clinical manifestations of Edwards-Klinefelter Syndromes were analyzed.
According to literature, 14 liveborn Edwards-Klinefelter syndromes cases had been reported. With the present case, there were 15 liveborn Edwards-Klinefelter syndromes cases. The median maternal age of 14 known cases was 23.5 years (range, 21-45). The clinical manifestations weren’t reported in one case. Intrauterine growth restriction occurred in 14 cases. Head and facial dysmorphism (such as microcephaly, prominent occiput, microphthalmia, low set dysplastic ears, micrognathia) and clenched hands were seen in 14 cases. Limb anomalies (such as clinodactyly, rocker-bottom feet) were seen in 10 cases. Bilateral cataracts were detected in two cases. Two cases had high-arched palate. Undesceended testis was detected in five cases. Two cases had congenital diaphragmatic hernia. Eleven cases had congenital heart defects. Patent ductus arteriosus (PDA) and atrial septal defect (ASD) were detected in the present case. One case had total anomalous venous drainage, single atrium, single ventricle. Ventricular septal defect (VSD) was detected in the other nine cases. Among the nine cases of VSD, other cardiac anomalies were also detected in six cases: PDA in three cases, ASD in one case, PDA and ASD in one case, PDA and pulmonary stenosis in one case. Six cases were presented with feeding difficulty. One case wasn’t reported the outcome. Four cases died within 1 week of age. Three cases died in 10 to 18 days of age. Five cases died in 1 to 4 months of age. The present case survived for more than 1 month after birth and loss to follow-up. One case survived for more than 21 months.
Most cases of liveborn Edwards-Klinefelter syndromes had congenital structural heart defects. The main cardiac anomaly was VSD.