Vascular ring and ventricular septal defect in a premature baby with smith–magenis syndrome

Abstract

Clinical detection of genetic disorders in early neonatal period is often difficult, particularly in the context of difficulty in recognizing subtle facial dysmorphism in prematurity. As the newer technology such as phenotype-based whole-exome sequencing is gaining popularity as the most effective and reliable way of early diagnosis more emphasis will be returned back to identify typical and uncommon phenotypical features of genetic disorders. Smith–Magenis syndrome (SMS) is a sporadic genetic disorder caused by 17p11.2 microdeletion in 90% of cases with wide variety of features ranging from intellectual disability, distinctive facial appearance, significant circadian sleep rhythm abnormality, congenital heart disease (CHD) (30%), brain and renal malformation to obvious behavioral problems, most of which, however, are appreciable only at late childhood. Currently, SMS is diagnosed by single-nucleotide polymorphism microarray. Earlier diagnosis for this sporadic condition depends on high index of suspicion, particularly for those who are missed during the fetal morphology scan. CHD can be a very important clue in the fetal or early neonatal period. In this article, we present a preterm infant with SMS in association with ventricular septal defect and vascular ring, a combination of which was not reported earlier. Notification of these atypical features is an important element of increasing the knowledge base in the process of the earlier diagnosis in future.