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…
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 subglottis) or in the trachea. 2. Stridor is a physical…
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 the need for tracheostomy. 3. Neonatal tracheostomy is associated with…
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 of cataract surgery is important; earlier detection and surgery have…
KEY POINTS 1. Causes of primary neonatal corneal opacification include congenital hereditary endothelial dystrophy (CHED), posterior polymorphous corneal dystrophy, congenital hereditary stromal dystrophy (CHED), and corneal dermoid. Secondary causes include trauma (e.g., forceps), infection, metabolic disorders, and congenital glaucoma. Corneal…
KEY POINTS 1. Major structural abnormalities of the eye in neonates include anophthalmos (no ocular tissues), microphthalmos (small, disorganized eye), nanophthalmos (small but relatively normally structured eye), and buphthalmos (whole eye is enlarged). 2. Major eyelid defects in neonates include…