KEY POINTS Differentiating between craniosynostosis and primary cranial deformation is critical to determining the proper mode of treatment. It is important for pediatric and primary care providers to know the normal range and timing of fontanel and cranial suture closure. Craniosynostosis can occur due to prenatal limitation of normal growth stretch across a suture during late fetal life or a deficit in brain growth, among other…

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KEY POINTS Brachycephaly is defined as a shortened, wide head, often caused by constant supine positioning during infancy. Infants should be placed on their backs for sleep but on their stomachs during awake time under adult supervision to encourage neck rotation and motor skills. Routine use of repositioning and tummy time during the first 6 weeks and thereafter should prevent brachycephaly. The “Back to Sleep” campaign…

KEY POINTS Sudden infant death syndrome (SIDS) has a multifactorial and heterogeneous etiology with a triple-risk hypothesis proposed: (1) exogenous/environmental stressor, (2) early infancy, and (3) an underlying vulnerability or genetic susceptibility. Metabolic conditions have historically been thought to be a substantial proportion of SIDS cases, but many are now detected early through newborn screening programs. Infant sleeping position has emerged as a major risk factor…

KEY POINTS Deformational plagiocephaly is most common in first born, large babies, breech presentation, and multiple-gestation infants. Factors associated with asymmetric head deformation include a constraining intrauterine environment, clavicular fracture, cervical/vertebral abnormalities, and incomplete bone mineralization. Nonsynostotic , deformational , and positional have been used to distinguish plagiocephaly without synostosis. Deformational plagiocephaly is not associated with premature closure of cranial sutures. The diagnosis can be challenging…

KEY POINTS Congenital muscular torticollis (CMT) must be distinguished from acquired torticollis and underlying structural torticollis (from cervical vertebral anomalies). It is most often caused by a congenital asymmetry in the length and/or strength of the sternocleidomastoid (SCM) muscles. CMT may be caused by early fetal head descent, an abnormal fetal position, venous occlusion, and/or trauma to the muscle during difficult deliveries. Other postnatal causes of…

KEY POINTS Congenital compression of the chin can limit jaw growth before birth and result in asymmetric jaw retrusion. An asymmetric mandible can be secondary to an altered cranial base or a condylar abnormality secondary to genetic or environmental factors. Skin redundancy under the chin suggests pressure-induced growth restriction of the jaw. Asymmetric mandibular growth deficiency is often associated with muscular torticollis and can indicate associated…

KEY POINTS Congenital ear deformities are common, with an incidence as high as 58% of all newborns. Congenital ear anomalies are divided into malformations and deformations. Malformations involve chondro-cutaneous defects, while deformations involve mechanically distorted architectural anomalies of the newborn’s pinna. Crumpled and distorted ears can be secondary to late gestational deformational forces. Apparent ear enlargement on the side opposite the muscular torticollis is common. Many…

KEY POINTS Nasal deformities can result from constraint or a birth-related trauma in newborns. Nasal septum deviations must be distinguished from deformities of the whole nose. Spontaneous correction of nasal deformities can occur within the first 3 months of life. Nasal obstruction in infants may require intervention, especially if it leads to significant respiratory distress and oxygen desaturation. Failure to recognize and treat dislocation may lead…

KEY POINTS External fetal constraint rarely causes persistent scoliosis but can result in infantile idiopathic scoliosis that responds to physical therapy. Congenital scoliosis is caused by a failure of vertebral segmentation, which may lead to progressive spinal deformity with growth. Neuromuscular scoliosis is caused by central nervous system dysfunction, peripheral neuromuscular dysfunction, or combined sensory and motor dysfunction. Idiopathic scoliosis is divided into infantile (in children…

KEY POINTS Pectus excavatum and pectus carinatum are the most common abnormalities of the thorax. The incidence of pectus excavatum is between 1 and 8 per 1000 persons, and pectus carinatum is two to four times less frequent than pectus excavatum. Pectus excavatum is thought to result from overgrowth of costal cartilages, which becomes more apparent during the period of rapid skeletal growth in early adolescence.…

KEY POINTS Lung hypoplasia implies an abnormal reduction in the weight and/or volume of the lung without the absence of any of its lobes. Decreased lung weight and volume can result from fewer bronchial branches, reduced numbers of alveoli, decreased alveolar size, or any combination of these phenomena. Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration or lung growth, and this…

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KEY POINTS Eventration of the diaphragm is defined as abnormal elevation of the diaphragm, which can originate from a congenital defect or be acquired. Acquired eventration caused by injury to the phrenic nerve with resultant paralysis and elevation of the entire diaphragm can be secondary to an injury sustained during cardiothoracic surgery, or due to birth trauma. Brachial plexus palsy is the most common comorbidity with…

KEY POINTS The frequency of brachial plexus palsy has been decreasing with improved obstetric management. Lesions that affect the upper segments (C5–C7) result in Erb palsy, whereas lesions that affect the lower spinal segments (C7–T1) result in Klumpke palsy. Traction to the plexus, especially the upper plexus, occurs during delivery when the angle between the neck and shoulder is suddenly and forcibly increased, with the arms…

KEY POINTS Traumatic facial nerve palsy has been associated with birth weight greater than 3500 g, forceps-assisted deliveries, and prematurity. When facial nerve paralysis is of developmental origin, it may be part of a broader pattern of altered morphogenesis. Facial paralysis with associated distal limb deficiency has been seen after early chorion villus sampling, failed dilation and curettage, maternal use of either thalidomide or misoprostol after…

KEY POINTS Dislocation of the radial head is the most common congenital anomaly of the elbow. The direction of bowing of the ulna depends on the type of dislocation of the radial head, and if an abnormal position is initiated by one of the bones of the forearm, the other bone will bend accordingly as it grows. Most patients are asymptomatic and treated with observation and…

KEY POINTS Hyperextension of the leg with dislocation at the knee may result from the legs being in an extended posture with breech presentation, oligohydramnios, or other unusual late gestational constraint, and it can also occur in various genetic connective tissue disorders. If the tibia is displaced anterior to the long axis of the femur, the knee is considered dislocated , but if longitudinal contact is…

KEY POINTS Certain risk factors warrant close surveillance for congenital hip dislocation: positive family history, breech presentation, firstborn children, female gender, accompanying postural deformations, and certain postnatal positioning. All gradations of dislocation, from a partially stretched, dislocatable hip to a fully dislocated hip, occur with an overall frequency of about 1%–3%. In newborns, positive Ortolani and Barlow tests continue to be effective clinical screening tests for…

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