In recent years, improved neonatal care has led to increased survival of small extreme preterm and very sick newborns, albeit with higher long-term morbidities. The aim of our care is not just newborn survival but to ensure comprehensive intactness of the survived neonate. Here lies the role of early intervention (EI) and developmentally supportive care (DSC). It starts from periconceptional period and continues in utero-natal-postnatal periods and beyond discharge from the neonatal intensive care unit (NICU). The strategy should be to provide in-utero environment in NICU to the extent possible, to prevent disability and reduce any long-term morbidity. EI should focus on each and every organ of body and not just brain. EI is a team effort, with mother playing a pivotal role. Kangaroo mother care is the cornerstone of EI. Focused attention should be given to prevent contractures at the joints. To ensure the compliance, a checklist should be devised on DSC and EI and to be followed in daily EI rounds in addition to the service rounds in the NICU.

Joubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%–10% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.