Journal of Perinatology

https://doi.org/10.1038/s41372-019-0585-5

REVIEW ARTICLE

Anomalies of the oral cavity in newborns

Federico Mecarini1 Vassilios Fanos1 Giangiorgio Crisponi1
● ●

Received: 4 September 2019 / Revised: 6 December 2019 / Accepted: 21 December 2019

© The Author(s), under exclusive licence to Springer Nature America, Inc. 2020

Abstract
Examination of the oral cavity should be an essential part of the newborn assessment. Early detection of congenital disorders
is essential to begin appropriate medical or surgical therapy and to prevent complications that could profoundly affect a
child’s life. The present review aims to describe the main anomalies of the oral cavity in infants and provide images in order
to help the physician in current clinical practice.

Introduction to 35% of newborns and no gender predilection. EPs appear

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as whitish papules of a few millimeters, classically grouped

Anomalies of the oral cavity are disorders involving lips,
maxillary bones, palate, floor of the mouth and tongue.
The majority of these abnormalities may be due to errors in
embryonic development or may be the result of adverse
intrauterine events affecting healthy fetal growth. Soft tissue
lesions of the mouth, in particular, are a heterogeneous group
of pathologies that concern parents and may be challenging for
neonatologists. Most lesions are isolated and asymptomatic but
can also be signs of more complex systemic diseases [1, 2].
Cyst and pseudocyst
Congenital cysts of the oral cavity are rare disorders, but
they represent the most prevalent defects of soft tissues
of the oral cavity. These include Epstein pearls, Bohn’s
nodules, gingival cysts, eruption cysts, epidermoid and
dermoid cysts, mucoceles and ranula. True cyst is dis-
tinguished by the epithelial lining forming its wall, which
instead is absent in pseudocysts [2].
on the midline of the palate (palatal raphe) (Fig. 1). EPs are
thought to derive from epithelial tissue left over during
embryonic palatal fusion processes or from epithelial resi-
dues resulting from the formation of minor salivary glands
in the palate [3–6].
Bohn’s nodules
Bohn’s nodules (BNs) are common lesions, with an esti-
mated prevalence up to 47% of newborns. They were
described for the first time by Heinrich Bohn as “mucous
gland cysts”. BNs are true cysts containing acinar and
ductal cells, and they appear as pearly-white roundish
papules, isolated or multiple, without surrounding ery-
thema, clustered along the maxillary gingival surface
(Fig. 2). BNs originate from remnants of the mucosal minor
salivary glands on the lateral surface of the alveolar pro-
cesses. They are benign, self-limiting lesions and disappear
spontaneously over weeks or months [1, 3, 6–9].

Epstein pearls Eruption cysts

Alois Epstein first described Epstein pearls (EPs) in 1880. Eruption cysts (ECs) are widespread lesions in the first decade
These are common keratin-filled cysts, with a prevalence up of life, but they are rarely observed in neonates considering
that tooth eruption is unusual in this population. ECs are
thought to arise from dental lamina remnants or degenerative
* Federico Mecarini cystic modification in the dental enamel epithelium during
federicomecarini@gmail.com
amelogenesis. Clinically, they appear as a bluish, translucent,
1
Neonatal Intensive Care Unit, AOU Cagliari, University of rounded swelling of the alveolar ridge, superficially to a
Cagliari, Cagliari, Italy tooth in the eruption process (Fig. 3). The most commonly

Fig. 1 Epstein pearls along the palatal raphe.
Fig. 2 Bohn’s nodules appear as multiple pearly-white papules on the
gingival surfaces of a neonate.
affected teeth are lower central incisors, that are prevented to
erupt due to density of the overlying fibrotic mucosa. When a
tooth is unerupted (inside the bones), ECs shall be defined
dentigerous cysts or follicular cysts. Biopsy with a fine
aspirate needle (FNAB) is the gold standard for the diagnosis.
Treatment should be marsupialization or surgical extraction of
the cyst [2, 10, 11].
Epidermoid and dermoid cysts
Epidermoid and dermoid cysts (EDCs) are benign lesions
that can occur in any part of the body. They are extremely
F. Mecarini et al.
Fig. 3 Congenital eruption cyst appearing as bluish, translucent,
rounded swelling of the alveolar ridge.
rare in the oral cavity, where they account for less than
0.01% of all oral cavity cysts. EDCs present as nonpainful
swelling, usually located on the floor of the mouth, less
commonly on the lips, tonsils or palate. The pathogenesis
involves ectodermal derivation. Indeed, EDCs originate from
entrapment of germinal epithelium during the closure of the
mandibular and hyoid branchial arches. Histologically, they
are true cysts and may be divided into histological categories
by determination of cyst lining characteristics. Epidermoid
cysts are lined only by epidermis; dermoid cysts are
covered by skin tissue; teratoid cysts contain tissues derived
from the three germinal layers. Even if EDCs are slow-
growing asymptomatic masses, they can cause respiratory
or feeding difficulties, thus they should be surgically
removed [12–14].
Mucoceles
Oral mucoceles (OMs) are benign lesions that results from
an alteration of the minor salivary glands in the oral cavity.
They rarely occur under the year of life, in about 2.7% of
children, and have a peak of incidence in the second and
third decades of life. Clinically, OMs appear as bluish,
transparent, rounded swelling, more frequently located on
the lower lip (Fig. 4). Other sites may include tongue, palate
and upper lip. From the pathogenetic point of view, there
are two hypothesized mechanisms: extravasation or reten-
tion. Extravasation mucocele results from rupture of minor
salivary gland duct and leakage of the mucous secretion into
the surrounding tissue. Subsequently, this secretion is
encapsulated by granulation tissue forming a pseudocyst.
On the other hand, retention mucocele, which is more
common in adults, is the consequence of glandular ductal
obstruction. Impediment to normal outflow leads to accu-
mulation of secretion producing a true cyst, which is lined
Anomalies of the oral cavity in newborns

Fig. 4 a, b Mucocele. Solitary

swelling located on lower lip.

Fig. 5 a Ranulas sublingual

swelling on the floor of the oral
cavity, laterally to the frenulum.
b Ranula displacing the tongue
laterally.

by ductal epithelium. Diagnosis is confirmed by fine-needle chronic inflammation or sialolithiasis of submandibular

aspiration cytology (FNAC). OMs could often resolve gland, that leads to obstruction of the Wharton’s duct and
spontaneously and surgical excision should be performed cystic degeneration. The diagnosis is confirmed by fine-
only in case of large lesions [15–17]. needle aspiration cytology (FNAC). Treatment can range
from aspiration to surgical excision [2, 18, 19].

Ranula
Congenital ranula (CR) is an intraoral cyst or pseudocyst,
which arise in the floor of the mouth. The term ranula
derives from its resemblance to a frog’s abdomen. Its pre-
valence is 0.2 cases per 1000 in the pediatric age. Clinically,
CR appears as a globular, smooth, bluish, fluctuating
swelling, located on the floor of the oral cavity, laterally to
the frenulum (Fig. 5). Large ranulas can also appear as neck
masses, extending through or behind the mylohyoid muscle
of the base of the mouth. These ranulas are called cervical
or plunging ranulas. They are thought to occur as the
proliferation of the epithelial remnants, included in the
sublingual gland during embryogenesis. In the adult,
instead, the pathogenesis is more frequently related to
Tumors
Different types of congenital tumors can occur in the oral
cavity. Epithelial teratomas and choristomas are the most
frequent, but granular cell tumors, such as epulis and
myoblastoma, or vascular neoplasms may also be present.
Choristoma
Choristomas (CHs) of the oral cavity are rare lesions in
neonatal age. Histologically, they consist of healthy tissue
sited in an atypical location. These heterotopic cells prob-
ably derive from the primitive gut and can form different

tissues: epithelium (gastric, respiratory, thyroid), glia, car-
tilage and bone. Ectopic thyroid gland, called lingual
thyroid (LT), appears as a nodular mass in the midline of the
dorsal tongue at the junction of the anterior two-thirds and
posterior third, in the foramen cecum area (Fig. 6). It occurs
due to the failure of the thyroid gland to descend to its usual
cervical location during embryogenesis. Clinically, CHs
appear as cystic masses, typically placed in the tongue or
the floor of the mouth. More rarely, they can be found in
pharynx and hypopharynx. Infections, ulcerations and
hemorrhages are rare the primary complications. CH could
cause airway obstruction and feeding difficulties, therefore
surgical treatment should be considered [20–27].
Granular cell tumor
Granular cell tumor (GCT) is a soft tissue neoplasm first
reported by Abrikossoff in 1926. It is a benign tumor, quite
rare in the newborn period. It is considered to originate from
Fig. 6 Lingual thyroid appears as a mass in the midline of the tongue
in a newborn.
Fig. 7 a, b Granular cell tumor
appears as asymptomatic
yellowish nodules on the
anterior part of the tongue in two
different infants.
F. Mecarini et al.
undifferentiated mesenchymal cells and particularly from
the altered metabolism of Schwann cells. Clinically, GCT
appears as a solitary asymptomatic yellowish nodule in the
oral cavity, commonly on the anterior part of the tongue
(Fig. 7). Surgical excision of the lesion is usually the
resolutive treatment [28–30].
Congenital epulis (CE) is a rare benign intraoral tumor
present in oral cavity of newborns at birth. It was firstly
described by Neumann in 1871. The term epulis derives
from the Greek and literally means “above the gingiva”. It
appears as a solid ovoid mass of variable dimensions, from
a few mm to several cm, which arises from the alveolar
mucosa and protrudes into oral cavity (Fig. 8). The etiology
of congenital epulis is unknown, but a hormonal mechanism
has been hypothesized due to the higher prevalence in
females (up to 8–10 times more frequent in females than
males). Histologically, it is a benign cell granular tumor.
A large CE may cause both breathing and swallowing dif-
ficulties and requires early surgical excision [31–33].
Hemangioma
Infantile Hemangioma (IH) is a common benign vascular
neoplasm in infants, that involves most frequently the head
and neck region. This accounts for one third of oral cavity
tumors in children together with lymphangioma. Common
oral locations are lips, buccal mucosa, and tongue. Lips
hemangioma may be located on the midline or laterally,
typically sparing oral commissure. Clinically, IH develops a
few weeks after birth and appears as raised red-bluish
swelling of the mucosa, that rapidly grows until 12 months
of life (Fig. 9). After this period, it has a natural involuting
course up to six years. Therefore, conservative management
Anomalies of the oral cavity in newborns
Fig. 8 Congenital epulis in the same newborn in antenatal ultrasound presentation a, at birth b and after surgical excision c.
Fig. 9 A lower lip hemangioma in an infant.
is usually recommended. Oral cavity IH can also be treated
with medical therapy, using oral propranolol or corticos-
teroids. Surgical excision is indicated in cases of compli-
cations, such as ulceration or bleeding [34, 35].
Lip anomalies
Macrostomia
Macrostomia, or transverse facial cleft (TFC), is a rare
congenital malformation characterized by an enlargement of
the mouth due to a defect in the closure of the labial
commissures. The estimate incidence ranges from 1: 80000
to 1:300000 live births, with a prevalence in males. TFC can
be unilateral or less commonly bilateral (10–20% of cases)
and it range in severity from mild, if only the skin is
involved, to severe when it affects other tissues as well,
such as muscles and bones (Fig. 10). Etiologically, the
malformation derives from the interruption of the embryo-
nic mesoderm migration. This causes a defect of fusion
between the maxillary and mandibular processes, which
Fig. 10 Congenital macrostomia in a newborn: bilateral lip cleft
involving orbicularis oris muscle.
derive from the first branchial arch during the 4–5 week of
embryonic life. TFC is multifactorial disorder and is often
associated with other anomalies of the head or neck
development as a sign of syndromes of the first and second
branchial arches, such as craniofacial microsomia. It
can also be found in other complex syndromes such as
Williams, Noonan, Angelman, Beckwith–Wiedemann,
Morquio, Treacher–Collins, and Ablepharon–Macrostomia
syndrome. Feeding and phonological problems can occur in
severe forms, therefore surgical correction should be per-
formed as soon as possible [36–39].
Microstomia
Microstomia (MCR) is a rare congenital malformation that
results in a longitudinal reduction in the size of the oral
cavity in newborns and may compromise feeding and
breathing abilities (Fig. 11). Astomia is the most severe
form of MCR and consist in complete fusion between the
upper and lower lip. During embryonic life, an excessive
fusion between maxillary and mandibular processes, arising

Fig. 11 a, b Frontal view of oral
aperture in a newborn affected
by microstomia with closed
a and open mouth b.
from the first pharyngeal arch, may cause this defect. MCR
may be isolated or associated with other craniofacial
anomalies, as part of a syndrome. Some examples of these
syndromes are Freeman-Sheldon, Hallermann-Streiff, Olo-
prosoencephaly, Trisomy 18, Fetal valproate syndrome.
Surgical correction is the conventional therapy, even if
dilation techniques have been used [40–42].
Lip pits
Lip pits (LPs) are rare congenital malformations, first
described by Demarquay in 1845. The most common pre-
sentation is two paramedian depressions in the vermilion
border, varying in size and usually equidistant from the
midline (Fig. 12). These pits predominantly affect the lower
lip, rather than the upper one. Histologically, they are
associated with minor salivary glands and they may drain
small quantities of mucus secretion. LPs may be isolated or
associated with other signs as a part of a syndrome. Van der
Woude syndrome (VWS) is an autosomal dominant dis-
order characterized by lower lip pits with or without cleft lip
and/or palate. It is thought to derive from mutations in
interferon regulatory factor 6 (IRF6). LPs have also been
described in syndromes such as Popliteal pterygium syn-
drome and Oro-Facial-Digital syndrome. Surgical removal
of lower lip pits should be performed in presence of chronic
inflammation of the glands or emotional and social pro-
blems [43–45].
Cleft lip and palate
Cleft of the lip and palate (CLP) is the most common cra-
niofacial malformation with an estimate incidence of 1:1000
live births. CLP may present as isolated deformities or
within the phenotype of a syndrome.
F. Mecarini et al.
Fig. 12 Paramedian lip pits of the lower lip in infant affected by Van
der Woude syndrome.
Syndromic cleft accounts for 30–40% of cases and
there are more than 400 syndromes which include clefts in
their signs. Isolated CLP is a multifactorial disease, with a
combination of genetic and environmental factors. These
agents may act on the differentiation and migration
of neural crest cells during the embryonic development of
the face and palate, between the 4th and 12th weeks of
intrauterine life. This leads to mesenchymal involvement
that results in the cleft of lip and palate. Clinically, oro-
facial clefts represent a heterogeneous group of disorders.
According to the anatomical structures involved, they can
be classified into three different phenotypes (Fig. 13).
Cleft lip is the abnormality anterior to the incisive
foramen and can be unilateral or bilateral, complete
(if it affects the lip and alveolar ridge reaching the incisive
foramen and extending to the nasal sill) or incomplete.
Cleft lip and palate is the malformation that involves lip,
alveolar ridge and palate, and may be unilateral, bilateral
or median, complete (if it affects primary and secondary
palate) or incomplete. Lastly, cleft palate involves only
the palate in different extents. Feeding difficulties, hearing
loss, speech and language problems, dental irregularities
and psychosocial issues are the main complications of
Anomalies of the oral cavity in newborns

Fig. 13 a Unilateral incomplete lip cleft. b Bilateral incomplete lip anterior displacement of the intermaxillary segment. f Complete palate
cleft. c Unilateral complete lip and palate cleft. d Bilateral incomplete cleft (affecting primary and secondary palate). g Incomplete cleft
lip and palate cleft. e Bilateral complete lip and palate cleft whit palate (involving only the soft palate and uvula) h Bifid uvula.

CLP. The correction of the defect is achieved through a

multidisciplinary team approach which involves surgeons,
dentist, orthodontists, psychologists, audiologists, speech
pathologists, geneticists and pediatricians [46–50].

Miscellaneous

Neonatal teeth

Eruption of teeth in newborns is a rare disorder of the

oral cavity. They are called “natal teeth”, if they already
present at birth, or “neonatal teeth”, if they erupt in the
first month of life. Their reported incidence ranges from
1:1000 to 1:3000 live births. Erupted teeth are non-
Fig. 14 Infant with neonatal teeth (lower incisors).
supernumerary deciduous teeth in most cases and usually
the lower incisors are the most involved (Fig. 14). Natal
and neonatal teeth may be associated to other anomalies
as a sign of syndromes, such as Ellis–Van Creveld, Ankyloglossia
Sotos, Creveld, Hallermann–Streiff and Pachyonychia
congenita. Sublingual ulceration is a possible complica- Ankyloglossia (AG), or tongue-tie, is a congenital oral
tion due to repetitive trauma on ventral surface of tongue. anomaly, characterized by a short lingual frenulum which
This condition is known as Riga–Fede disease. Breast- restrict tongue tip mobility. The term “ankyloglossia” ori-
feeding difficulties, avulsion, ingestion or aspiration ginates from the Greek word αγκυλος (agkilos - curved) and
are other complications. The radiographic examination γλωσσα (glossa - tongue). AG incidence varies from 0.02 to
allows distinguishing between teeth of the healthy denti- 5%, depending on the its definition. Indeed, AG may range
tion, that should be preserved unless complications, from mild to severe form with the tongue fused to the floor
and supernumerary primary teeth, that may be removed of the mouth (complete ankyloglossia). Usually, frenulum
[51–54]. appears short, tight and thick, and the tongue is often heart

Fig. 15 Newborn infant with severe ankyloglossia: the lingual frenum
extends from the alveolar ridge to the tongue, causing V-shaped tongue.
or V-shaped with severe limitation of mobility (Fig. 15).
The exact etiopathogenesis of ankyloglossia is unknown
and it can occur isolated or in association with other
anomalies as a part of a syndrome, such as Ehlers–Danlos,
Van der Woude, Beckwith–Wiedemann and Smith–Lemli–
Opitz syndrome. AG may be asymptomatic or can cause
several complications: breastfeeding difficulties, limitations
of tongue mobility, speech and articulation difficulties,
periodontal and malocclusion problems, and psychologic
problems. Surgical correction techniques include fre-
notomy, frenulectomy with or without myotomy, and Z-
plasty [1, 55–58].
Oral candidiasis
Oral candidiasis (OC) of newborns, or “thrush”, represents an
oral manifestations of Candida species colonization. C.
Albicans is the most common virulent type and account for
40–80% of Candida infections in newborn. Perinatal trans-
mission may be vertical, transmitted from mother during
birth, or horizontal, due to external contamination. Clinically,
the pseudomembranous form is the most frequent manifes-
tation of OC: whitish patches with surrounding erythema
involving cheek, tongue and palate mucosa (Fig. 16). These
patches are hardly detachable and mucosal erosion may occur
after mechanical stress. OC represents a risk factor for
development of Candida septicemia, especially in newborns
admitted in neonatal intensive care units. Invasive candidiasis
is the second infectious cause of death in preterm infants and
represents about 10% of newborns sepsis. Prematurity, low
birth weight, immunodeficiency, central venous catheter,
endotracheal tube, antibiotics or steroids use, maternal
hypertension, dialysis are the most important risk factor for
invasive candidiasis. OC should be treated with topical
antifungal drugs in order to avoid feeding problems and
systemic candidiasis [59–61].
F. Mecarini et al.
Fig. 16 Oral candidiasis in an infant.
Conclusion
All newborns should be examined for oral structural
abnormalities as an essential step in their assessment.
Congenital malformations of the oral cavity may involve the
lips, jaws, palate, floor of mouth, and tongue. A correct
evaluation of these abnormalities is essential for an early
management and prevention of related complications.
Acknowledgements All pictures have been collected over years of
clinical practice by Giangiorgio Crisponi, MD.
Compliance with ethical standards
Conflict of interest The authors certify that they have no affiliations
with or involvement in any organization or entity with any financial
interest or non-financial interest in the subject matter or materials
discussed in this manuscript.
Publisher’s note Springer Nature remains neutral with regard to
jurisdictional claims in published maps and institutional affiliations.
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