KEY POINTS 1. Genomic medicine has emerged as a new discipline to analyze the human genome and genetic information as a part of clinical care. 2. There are various types of molecular techniques to detect various genetic variations. Each method…
KEY POINTS 1. Should protein in the diet be limited while waiting for results? No. It is not recommended to change the diet to a specialized diet without confirmation of results. However, if the baby is critically ill, it may…
KEY POINTS 1. Inborn errors of metabolism (IEMs) are inherited conditions that block metabolic pathways. As a group, these conditions could be identified in 1 out of every 1500 infants. 2. We have suspected IEMs in infants during the early…
KEY POINTS 1. Fractures and musculoskeletal infections in neonates follow a distinct pathophysiology. 2. The clavicle is the most frequently injured long bone in newborns; the injury occurs most often during birth. These fractures heal and remodel well. In some…
KEY POINTS 1. Early diagnosis of abnormalities in the lower extremities is important for normal musculoskeletal and neurologic development. 2. Developmental dysplasia of the hip starts early in the embryonic period and continues after birth. It includes a range of…
KEY POINTS 1. Spina bifida usually can be diagnosed prenatally with screening and in the early neonatal period by physical exam. Early diagnosis and intervention may improve outcomes. 2. Assessment of vertebral anomalies is best done in early childhood. The…
KEY POINTS 1. Congenital upper extremity differences are relatively rare but numerous and complex in nature. 2. Refer to a pediatric hand surgeon for management if an upper extremity congenital anomaly is suspected. 3. Some of the relatively more common…
KEY POINTS 1. Nasal obstruction in neonates can cause respiratory distress and feeding difficulty, as newborns rely heavily on nasal breathing. 2. Mild cases of nasal obstruction can be observed, but severe obstructive lesions can be life-threatening and usually require…
KEY POINTS 1. All newborns must have a hearing screen by the age of 1 month, a diagnostic audiologic test at 3 months if they do not pass their hearing screen, and a referral for early intervention by 6 months…
KEY POINTS 1. Pierre Robin sequence (PRS) is an association of congenital micrognathia, glossoptosis, and cleft palate that presents with tongue-based airway obstruction. 2. Infants with PRS can present with a host of findings ranging from severe respiratory distress to…