The Abnormal Fontanel

Am Fam Physician. 2003 Jun 15;67(12):2547-2552.

The diagnosis of an abnormal fontanel requires an understanding of the wide variation of normal. At birth, an infant has six fontanels. The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. The most common causes of a large anterior fontanel or delayed fontanel closure are achondroplasia, hypothyroidism, Down syndrome, increased intracranial pressure, and rickets. A bulging anterior fontanel can be a result of increased intracranial pressure or intracranial and extracranial tumors, and a sunken fontanel usually is a sign of dehydration. A physical examination helps the physician determine which imaging modality, such as plain films, ultrasonography, computed tomographic scan, or magnetic resonance imaging, to use for diagnosis.

Examination of a newborn's fontanels offers the physician a window into the infant's developing brain and general state of health. The word “fontanel” is derived from the Latin fonticulus and the Old French fontaine, meaning a little fountain or spring.13 The normal fontanel varies widely in shape and time of closure. The incidence of abnormal fontanel differs, depending on the abnormality and cause.

FIGURE 1.

(Left) Lateral view of the newborn skull. (Right) Superior view of the newborn skull.

Redrawn with permission after Netter FH. Atlas of human anatomy. Summit, N.J.: Ciba-Geigy, 1994.

View Large


FIGURE 1.

(Left) Lateral view of the newborn skull. (Right) Superior view of the newborn skull.

Redrawn with permission after Netter FH. Atlas of human anatomy. Summit, N.J.: Ciba-Geigy, 1994.


FIGURE 1.

(Left) Lateral view of the newborn skull. (Right) Superior view of the newborn skull.

Redrawn with permission after Netter FH. Atlas of human anatomy. Summit, N.J.: Ciba-Geigy, 1994.

FIGURE 2.

Measurement of the anterior fontanel.

View Large


FIGURE 2.

Measurement of the anterior fontanel.


FIGURE 2.

Measurement of the anterior fontanel.

Anatomy of the Fontanels

Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull.

A newborn has six fontanels (Figure 1): the anterior and posterior, two mastoid, and two sphenoid.4 The rhomboid-shaped anterior fontanel, located at the juncture of the two parietal and two frontal bones, is the most prominent. The superior sagittal dural venous sinus is partially situated beneath the anterior fontanel. The triangular posterior fontanel is located at the junction of the occipital and two parietal bones.1,5

Growth and Development of the Skull

The flat bones of the skull develop as part of the membranous neurocranium. Needle-like spicules radiate from a primary ossification center toward the periphery. These irregular bone islands are remodeled into flattened sheets of bone by osteoblast and osteoclast activity. During fetal and postnatal life, the membranous bones enlarge by resorption centrally and by apposition of new layers at the edges of the sutures.5

Growth of the cranium is triggered by brain growth, two thirds of which occurs by two years of age. Except for the metopic suture between the frontal bones, which closes at two years of age, the sutures remain open until brain growth ceases in the second decade of life.6 Once a suture is fused, growth perpendicular to that suture is restricted. Therefore, fontanel size is influenced by brain growth, dural attachments, suture development, and osteogenesis.7

Examination of the Fontanels

PHYSICAL EXAMINATION

The newborn's skull is molded during birth. The frontal bone flattens, the occipital bone is pulled outward, and the parietal bones override. These changes aid delivery through the birth canal and usually resolve after three to five days.8 The newborn's skull should be evaluated for shape, circumference, suture ridges, and size of anterior and posterior fontanels. Size is calculated by the average of the anteroposterior and transverse dimensions9 (Figure 2).

The fontanels should be examined while the infant is calm and held in both supine and upright positions. In select cases, such as newborns with multiple hemangiomas or heart failure, the anterior fontanel is auscultated to detect a bruit, which can indicate an arteriovenous malformation.10 Palpation of the fontanel in the upright position may reveal a normal, slight pulsation. If the fontanels are closed and intracranial pressure has increased, percussion produces a “cracked-pot” sound (dull, lacking resonance), known as Macewen's sign.

Any associated dysmorphic facial features should be noted. Asymmetry of the head is detected by looking at the infant's head from above. Head circumference is an important indicator of brain development and should be monitored over time, especially if a fontanel closes early.6,11

IMAGING

Plain radiographs of the skull are the least expensive way to evaluate the sutures and cranial bones, but they are limited by the lack of mineralization of the neonatal cranium. Bridging of bone over a suture, an indistinct suture, or sclerosis along the suture margins indicates fusion. Cortical thinning, widened sutures, and a beaten-metal appearance known as “thumbprinting” are associated with increased intracranial pressure.12

If the anterior fontanel is open, ultrasonography is useful to evaluate ventricular dilatation.13 A computed tomographic (CT) scan can detect a fused suture, dilated ventricles, enlarged subarachnoid space, brain size, or an intracranial or extracranial mass.14 Magnetic resonance imaging (MRI) can detect cortical and white-matter abnormalities, such as degenerative diseases, and document the extent of calvarial masses. Disadvantages of CT scans and MRI include cost, the need for sedation, and, in the case of CT, irradiation.13,15

Normal Fontanel

POSTERIOR FONTANEL

At birth, the average size of the posterior fontanel is 0.5 cm in white infants and 0.7 cm in black infants.16 The fontanel usually is completely closed by two months of age.10

ANTERIOR FONTANEL

The key feature of a normal anterior fontanel is variation. On the first day of an infant's life, the normal fontanel ranges from 0.6 cm to 3.6 cm, with a mean of 2.1 cm.17 Black infants have larger fontanels (1.4 cm to 4.7 cm).16 The fontanels of full-term and preterm infants are similar in size once preterm infants reach term. The fontanel can enlarge in the first few months of life,18 and the median age of closure is 13.8 months. By three months of age, the anterior fontanel is closed in 1 percent of infants; by 12 months, it is closed in 38 percent; and by 24 months, it is closed in 96 percent. Anterior fontanels tend to close earlier in boys than in girls; the initial size of the fontanel is not a predictor of when it will close.19

Abnormal Anterior Fontanel

LARGE FONTANEL AND DELAYED FONTANEL CLOSURE

A list of the medical conditions associated with a large fontanel or delayed fontanel closure can be found in Table 1.20,21 Achondroplasia, congenital hypothyroidism, Down syndrome, rickets, and increased intracranial pressure are among the most common conditions.

Achondroplasia is an autosomal-dominant disorder of the epiphyseal plate cartilage that results in dwarfism.22 At birth, the infant has an enlarged head, low nasal bridge, prominent forehead, and shortened extremities, in addition to a large fontanel.9

An elevated thyroid-stimulating hormone level on a newborn screening usually detects congenital hypothyroidism, but an abnormally large anterior fontanel in conjunction with an open posterior fontanel can be an early sign of the disorder. Myxedema and growth deficiency are later signs.

TABLE 1

Conditions Associated with an Enlarged Anterior Fontanel and Delayed Closure

Conditions Enlarged fontanel Delayed closure

Most common

Achondroplasia

Congenital hypothyroidism

Down syndrome

Increased intracranial pressure

Normal variation

Familial macrocephaly

Rickets

Less common

Skeletal disorders

Acrocallosal syndrome (seizures, polydactyly, mental retardation)

Apert's syndrome (craniosynostosis, proptosis, hypertension)

Campomelic dysplasia (prenatal growth deficiency, large cranium, bowed legs)

Hypophosphatasia (polyhydramnios, short, deformed limbs, soft skull)

Kenny-Caffey syndrome (hypoparathyroidism, dwarfism, macrocephaly)

Osteogenesis imperfecta (shortened limbs, wormian calvarial bones)

Chromosomal abnormalities

Trisomy 13 (polydactyly, microcephaly, cleft lip and palate)

Trisomy 18 (growth retardation, small cranium, open metopic suture)

Congenital infections

Rubella (low birth weight, cataracts, “blueberry muffin” skin lesions)

Syphilis (saddle nose deformity, joint swelling, maculopapular rash)

Drugs and toxins

Aminopterin-induced malformation (craniosynostosis, absences of frontal bones, hypertelorism)

Fetal hydantoin syndrome (microcephaly, broad nasal bridge, hypoplasia of nails)

Dysmorphogenetic syndromes

Beckwith-Wiedemann syndrome (macrosomia, abdominal wall defect, macroglossia)

Zellweger syndrome (high forehead, flat occiput, abnormal ears, hypotonia)

Cutis laxa (pendulous skin folds, hoarse cry)

VATER association (vertebral defects, anal atresia, tracheoesophageal fistula, renal dysplasia)

Otopalatodigital syndrome (frontal bossing, broad terminal phalanges, syndactyly)

Miscellaneous

Malnutrition (poor weight gain, asymmetric growth)

Hydranencephaly (macrocephaly, thinned skull vault, primitive reflexes preserved)

Intrauterine growth retardation (birth weight less than 2 standard deviations below mean)


Information from references 20 and 21.

TABLE 1   Conditions Associated with an Enlarged Anterior Fontanel and Delayed Closure

View Table

TABLE 1

Conditions Associated with an Enlarged Anterior Fontanel and Delayed Closure

Conditions Enlarged fontanel Delayed closure

Most common

Achondroplasia

Congenital hypothyroidism

Down syndrome

Increased intracranial pressure

Normal variation

Familial macrocephaly

Rickets

Less common

Skeletal disorders

Acrocallosal syndrome (seizures, polydactyly, mental retardation)

Apert's syndrome (craniosynostosis, proptosis, hypertension)

Campomelic dysplasia (prenatal growth deficiency, large cranium, bowed legs)

Hypophosphatasia (polyhydramnios, short, deformed limbs, soft skull)

Kenny-Caffey syndrome (hypoparathyroidism, dwarfism, macrocephaly)

Osteogenesis imperfecta (shortened limbs, wormian calvarial bones)

Chromosomal abnormalities

Trisomy 13 (polydactyly, microcephaly, cleft lip and palate)

Trisomy 18 (growth retardation, small cranium, open metopic suture)

Congenital infections

Rubella (low birth weight, cataracts, “blueberry muffin” skin lesions)

Syphilis (saddle nose deformity, joint swelling, maculopapular rash)

Drugs and toxins

Aminopterin-induced malformation (craniosynostosis, absences of frontal bones, hypertelorism)

Fetal hydantoin syndrome (microcephaly, broad nasal bridge, hypoplasia of nails)

Dysmorphogenetic syndromes

Beckwith-Wiedemann syndrome (macrosomia, abdominal wall defect, macroglossia)

Zellweger syndrome (high forehead, flat occiput, abnormal ears, hypotonia)

Cutis laxa (pendulous skin folds, hoarse cry)

VATER association (vertebral defects, anal atresia, tracheoesophageal fistula, renal dysplasia)

Otopalatodigital syndrome (frontal bossing, broad terminal phalanges, syndactyly)

Miscellaneous

Malnutrition (poor weight gain, asymmetric growth)

Hydranencephaly (macrocephaly, thinned skull vault, primitive reflexes preserved)

Intrauterine growth retardation (birth weight less than 2 standard deviations below mean)


Information from references 20 and 21.

A third fontanel between the anterior and posterior fontanels is associated with hypothyroidism and Down syndrome.23 Infants with Down syndrome often have a single palmar crease, flat occiput and facies, rounded ears, and slanted palpebral fissures.

Rickets resulting from vitamin D deficiency rarely occurs in the United States but is one of the five most common childhood diseases in developing nations. Risk factors include breastfeeding without vitamin D supplementation, dark skin, and low sunlight exposure. One of the signs of rickets is craniotabes, a softened outer table of the occipital bone that buckles under pressure, producing a reaction similar to a ping-pong ball indenting and popping back out. Craniotabes is not present at birth but develops over the first few months of life. Craniotabes can occur normally in premature infants and in children younger than six months.18,24,25 Disorders associated with increased intracranial pressure that results in an abnormally large fontanel or delayed fontanel closure are discussed later in this article.

SMALL FONTANEL OR EARLY FONTANEL CLOSURE

Fontanel closure that occurs as early as three months of age can be within normal limits, but careful monitoring of head circumference in such cases is essential to exclude a pathologic condition. The fontanel sometimes can be open but difficult to detect during a physical examination. Craniosynostosis and abnormal brain development are associated with a small fontanel or early fontanel closure.20

TABLE 2

Differential Diagnosis of Microcephaly

Most common

Chromosomal defects

Congenital infections

Fetal alcohol syndrome

Hypoxic-ischemic encephalopathy

Normal genetic variation

Others

Autosomal dominant or recessive types

Dysmorphic syndromes

Malnutrition

Maternal phenylketonuria

Normal variation

Structural brain defects

Universal craniosynostosis


Information from references 20 and 28.

TABLE 2   Differential Diagnosis of Microcephaly

View Table

TABLE 2

Differential Diagnosis of Microcephaly

Most common

Chromosomal defects

Congenital infections

Fetal alcohol syndrome

Hypoxic-ischemic encephalopathy

Normal genetic variation

Others

Autosomal dominant or recessive types

Dysmorphic syndromes

Malnutrition

Maternal phenylketonuria

Normal variation

Structural brain defects

Universal craniosynostosis


Information from references 20 and 28.

Craniosynostosis is the premature closing of one or more cranial sutures, resulting in an abnormal head shape. The condition can be idiopathic or caused by hyperthyroidism, hypophosphatasia, rickets, or hyperparathyroidism.20 It is also associated with more than 50 syndromes, such as Apert's, Crouzon's and Pfeiffer's. The risk of primary isolated craniosynostosis is 0.4 per 1,000 live births, and the sagittal suture is most commonly involved.

Examination at birth of an infant with craniosynostosis might reveal a ridge over a suture or lack of movement along a suture when alternating sides are gently pressed. Overriding of sutures from the normal molding process should resolve within the first few days of life.9 Later physical findings in infants with primary craniosynostosis include stunted cranial growth, increased intracranial pressure, proptosis, strabismus, and hearing impairment.26

Plain radiographs of the skull are used for initial evaluation. If craniosynostosis is present, a three-dimensional CT scan is obtained to detect any underlying brain abnormalities and to assist planning for surgery.27

Abnormal brain development that results in microcephaly also can cause a small anterior fontanel or early fontanel closure. Prenatal trauma to the brain, such as maternal alcohol abuse, and postnatal trauma, such as hypoxia, are potential causes of microcephaly.20  Table 220,28 lists the differential diagnosis for microcephaly.

BULGING OR SUNKEN FONTANELS

Disorders associated with increased intracranial pressure can cause a bulging anterior fontanel. The most common disorders are meningitis, encephalitis, hydrocephalus, hypoxic-ischemic injury, trauma, and intracranial hemorrhage.20  Table 320 lists the differential diagnoses for a bulging fontanel. Palpation may reveal a tense fontanel that feels similar to bone.23

Meningitis and encephalitis also cause temperature instability, poor feeding, and irritability. If meningitis is suspected, a lumbar puncture should be performed to evaluate the cerebrospinal fluid for Gram stain, protein, glucose, cell count, and culture. A CT scan of a child with meningitis shows the subarachnoid space expanding into the anterior fontanel.21

Hydrocephalus can result from an imbalance between the production and the absorption of cerebral spinal fluid. This condition affects 3 per 1,000 live births. Most cases occur before two years of age, while the anterior fontanel is still open. Physical signs include an abnormal rate of head growth, frontal bossing of the forehead, widened sutures, and dilated scalp veins. Imaging with ultrasonography, CT, or MRI shows enlarged ventricles in the absence of brain atrophy. Because ultrasonic waves will not penetrate bone, the anterior fontanel must be open if ultrasonography is used for diagnosis.13,15

Hypoxic-ischemic injury results in cytotoxic edema and diffuse brain swelling. Associated findings include poor feeding, decreased muscle tone, respiratory difficulties, and alterations in consciousness. Intracranial hemorrhage can be intraventricular, parenchymal, subarachnoid, or subdural. Associated findings include decreased muscle tone, seizures, decreased hematocrit, vomiting, and alterations in consciousness.20

Tumors also should be considered in the differential diagnosis of a bulging fontanel. Dermoid tumors of the scalp are the most frequent lesions presenting over the anterior fontanel and also may be found over the posterior fontanel.29,30 They usually are slow-growing and nontender, and they are twice as common among girls. A CT scan is necessary to exclude intracranial involvement.30 Brain tumors, which can present with signs of increased intracranial pressure and focal neurologic findings, are best diagnosed with MRI.31

The primary cause of a sunken fontanel is dehydration. Other signs include reduced peripheral perfusion, poor skin turgor, and sunken eyes.32

TABLE 3

Differential Diagnosis of a Bulging Fontanel

Hydrocephalus

Space-occupying lesions

Brain tumor

Intracranial hemorrhage

Brain abscess

Infections

Meningitis

Encephalitis

Roseola

Shigella

Mononucleosis

Lyme disease

Mastoiditis

Cerebral malaria

Cysticercosis

Poliomyelitis

Endocrine disorders

Hyperthyroidism

Hypoparathyroidism

Pseudohypoparathyroidism

Addison's disease

Hypothyroidism

Cardiovascular disorders

Congestive heart failure

Dural sinus thrombosis

Hematologic disorders

Polycythemia

Anemia

Leukemia

Metabolic disorders

Diabetic ketoacidosis

Electrolyte disturbance

Hepatic encephalopathy

Uremia

Galactosemia

Hypophosphatasia

Osteoporosis

Maple syrup urine disease

Miscellaneous

Hypervitaminosis A

Lead encephalopathy

Aluminum toxicity

Brain contusions

Hypoxic-ischemic injury

Coronal synostosis

Trauma

Dermoid cyst


Information from reference 20.

TABLE 3   Differential Diagnosis of a Bulging Fontanel

View Table

TABLE 3

Differential Diagnosis of a Bulging Fontanel

Hydrocephalus

Space-occupying lesions

Brain tumor

Intracranial hemorrhage

Brain abscess

Infections

Meningitis

Encephalitis

Roseola

Shigella

Mononucleosis

Lyme disease

Mastoiditis

Cerebral malaria

Cysticercosis

Poliomyelitis

Endocrine disorders

Hyperthyroidism

Hypoparathyroidism

Pseudohypoparathyroidism

Addison's disease

Hypothyroidism

Cardiovascular disorders

Congestive heart failure

Dural sinus thrombosis

Hematologic disorders

Polycythemia

Anemia

Leukemia

Metabolic disorders

Diabetic ketoacidosis

Electrolyte disturbance

Hepatic encephalopathy

Uremia

Galactosemia

Hypophosphatasia

Osteoporosis

Maple syrup urine disease

Miscellaneous

Hypervitaminosis A

Lead encephalopathy

Aluminum toxicity

Brain contusions

Hypoxic-ischemic injury

Coronal synostosis

Trauma

Dermoid cyst


Information from reference 20.

Final Comment

An abnormal fontanel in an infant can indicate a serious medical condition. Therefore, it is important to understand the wide variation of normal, how to examine the fontanels, and which diagnoses to consider when an abnormality is found. Consultation with a pediatric neurosurgeon should be considered if the diagnosis or presence of an abnormality is unclear.

The Authors

JOSEPH KIESLER, M.D., is an assistant professor and director of the underserved residency track in the Department of Family Medicine at the University of Cincinnati College of Medicine. He graduated from and completed a family medicine residency at the University of Cincinnati College of Medicine.

RICK RICER, M.D., is professor and vice-chair for educational affairs in the Department of Family Medicine at the University of Cincinnati College of Medicine. He received his medical degree from Ohio State University College of Medicine, Columbus, and completed a family medicine residency at DeWitt Army Hospital in Ft. Belvoir, Va.

Address correspondence to Joseph Kiesler, M.D., University of Cincinnati, Department of Family Medicine, 2446 Kipling Ave., Cincinnati, OH 45239 (e-mail: kieslehj@fammed.uc.edu). Reprints are not available from the authors.

The authors indicate that they do not have any conflicts of interest. Sources of funding: none reported.

The authors thank Bruce Giffin, Ph.D., Department of Cell Biology, Neurobiology, and Anatomy at the University of Cincinnati, for review of the manuscript.

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Members of various family practice departments develop articles for “Problem-Oriented Diagnosis.” This article is one in a series from the Department of Family Practice at the University of Cincinnati College of Medicine. Guest coordinator of the series is Susan Montauk, M.D.


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