Genetics of Common Birth Defects in Newborns
KEY POINTS 1. Birth defects are among the leading causes of morbidity and mortality in children and are present in 3% to 6% of births. 2. The most common birth…
PEDIATRICS
An Overview of GeneticTesting
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…
Screening Programs for EarlyDetection of Inborn Errors ofMetabolism in Neonates
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…
Altered Development of the Kidneys and the Urinary Tract
KEY POINTS 1. Congenital renal anomalies account for one-fourth of all congenital anomalies. 2. Early pre- or postnatal detection can facilitate appropriate, timely management. 3. Many infants will require coordinated,…
Stridor and Laryngotracheal Airway Obstruction in Newborns
KEY POINTS 1. Stridor is a sound caused by obstruction of the upper airway, usually from abnormalities within one or more of the subsites of the larynx (supraglottis, glottis, and…
Cataract and Glaucoma
KEY POINTS 1. Cataracts are inherited or sporadic; congenital or acquired; isolated or in a syndrome. 2. Size, density, and location of lens opacity influence its visual significance. 3. Timing…
Congenital Hearing Loss Seen in Neonates
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…
Pierre-Robin Sequence/Cleft Palate-Related Airway Obstruction Seen in Neonates
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…
Upper Extremity Conditionsin the Neonate
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…
Neonatal Tracheostomy
KEY POINTS 1. Chronic cardiopulmonary and neurologic disorders are the most common indications for neonatal tracheostomy, overtaking upper airway obstruction. 2. Noninvasive ventilation of neonates is likely reducing indications and…
