β Scribed by Al-Ata, Jameel; Paquet, Marc; Teebi, Ahmad S.
No coin nor oath required. For personal study only.
We describe a patient with Robinow syndrome and multiple congenital heart defects that included double outlet right ventricle (DORV), subaortic ventricular septal defect (VSD), infundibular and valvar pulmonary stenosis (PS), and a patent ductus arteriosis (PDA), and we review the literature to document the frequency and type of congenital heart disease in Robinow syndrome.
The patient was a male infant born at full term to a healthy G2P0A1 mother by spontaneous vaginal delivery. He was noted to have an abnormal facial appearance and cyanosis with minimal respiratory distress in the first few hours of life. His parents were phenotypically normal and of South Eastern Asian origin. They are nonconsanguineous and their family history is un-
π SIMILAR VOLUMES
Sotos syndrome is a relatively common overgrowth syndrome with characteristic physiognomy. We report on 3 patients with congenital heart defects out of 14 Sotos syndrome patients studied clinically and or by echocardiography. Review showed another 17 patients with variable cardiac defects, mostly cl
We have read with great interest the paper by Ka Β¨lle Β΄n et al. [1996] on major congenital malformations in Down syndrome. We would like to comment that the increased risk for anorectal atresia and esophageal atresia in Down syndrome, as observed in this paper, was previously identified by Khoury