International Journal of Pediatric Otorhinolaryngology Extra (2007) 2, 238242

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CASE REPORT

A case report of congenital arhinia and

literature review
Tsvetan Marinov a,*, Petar Rouev b, Youri Anastassov c,
Philippe Pellerin d, Katja Kovacheva e, Maxim Jonov f

a
Department of Otorhinolaryngology, Medical University Pleven, St. Kliment Ohridski Str. Nr. 1,
5800 Pleven, Bulgaria
b
Clinic of Otorhinolaryngology, Medical Faculty, Thracian University Stara Zagora, Bulgaria
c
Plastic and Craniofacial Clinic, Medical University Plovdiv, Bulgaria
d
Department of Plastic Surgery, University Hospital Lille, France
e
Department of Medical Genetics, Medical University Pleven, Bulgaria
f
Clinic of Neonatology, Medical University Pleven, Bulgaria

Received 25 March 2007; received in revised form 19 July 2007; accepted 19 July 2007
Available online 17 September 2007

KEYWORDS Summary We report about a boy with congenital total arhinia and coloboma of the
Congenital total iris. The newborn had complete absence of external nose, nasal and paranasal
arhinia; cavities, with that area being flat with some elevation and firm on palpation.
External nose; Congenital arhinia is a rare developmental abnormality characterised by lack of
Nasal and paranasal the formation of external and internal nasal structures. Since there were no life-
cavities; threatening complications a tracheotomy was not performed on this newborn. Airway
Newborn infant; support with oropharyngeal tube was made and the feeding of the child was through
Abnormalities and an orogastral tube. The child learned to breathe and to eat through the mouth and at
anomalies age of 3 years a reconstruction of the external nose was performed. Description of the
treatment, embryological aspect and a literature review is made to suggest guidelines
for the management of such cases.
# 2007 Elsevier Ireland Ltd. All rights reserved.

1. Introduction body with different range of severity and high range

Congenital absence of the nose is an extremely rare
anomaly, which most often presents to the otorhi-
nolaryngologist. Arhinia is a malformation in the
middle third of the face, frequently associated with
anomalies of the central nervous system and the
* Corresponding author.
E-mail address: tsvetan_marinov@mail.bg (T. Marinov).
of mortality. Arhinia is the congenital absence not
only of the external nose, but absence of the nasal
cavities and absence of the olfactory apparatus [1].
Absence of the nose leads to severe compromise of
the breathing and problems with the feeding of the
newborn. The dyspnea often demands performing a
tracheotomy [2,3]. In order to find the degree of the
severity of the malformation an imaging workshop
must be doneCT, MRI, ultrasound investigation of

1871-4048/$ see front matter # 2007 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.pedex.2007.07.002
A case of congenital total arhinia
Fig. 1 The profile photograph shows newborn with
arhinia.
the abdomen, the heart, etc. We present an unusual
case of congenital arhinia with later surgical treat-
ment in a 3-year-old boy.
2. Case report
A full-term boy was born via an uncomplicated
vaginal delivery with 3100 g body weight and height
50 cm. The child was normocephalic, with a head
circumference of 34 cm, and both fontanels were
patent and flat. Prenatal care including ultrasound
findings were normal. At birth, the baby showed
complete absence of nasal bones, and the place of
the piriform aperture was covered with skin and firm
bony plate, and a high-arched palate combined with
hypertelorism and coloboma of the iris. Owing to
severe respiratory difficulty an oral air tube was
introduced. Axial CTscan images showed an absence
of the nasal and paranasal cavities; the noncontrast
CT findings in the brain were normal (Figs. 13).
Fig. 2 The face photograph shows newborn with arhinia.
239
The degree of nasal absence varies from case to
case. In our case there was a thick bone plate in the
place of the nostrils, the hard palate was well
formed but it was located high and arched super-
iorly. The child learned quickly to breathe through
the mouth and on the 10th day the oral airway was
removed; the baby was fed through an orogastral
tube. The parents gave up the child and he was
settled in an orphanage institution. At the age of 3
years the child was in good physical and mental
condition with normal intelligence (Fig. 4). At that
age a reconstruction of the external nose was per-
formed. The operation was performed and an obli-
que forehead flap was employed and rib cartilage
was used (Figs. 5 and 6). A photograph of the child 9
months after the operation shows postoperative
cosmetic result (Fig. 7).
3. Discussion
Several reviews of arhinia literature have been
reported. Cohen and Goitein reported a total lit-
erature survey of 12 cases of total arhinia [4]. Since
1987 we have find out other 17 cases of total arhinia
in the literature, which makes the number of all
reported cases 29.
Embriologycal aspects: the formation of the face
is preceded by wavelike migrations of cranial neural
crest cells from the region of the trigeminal nerves
to the face [5]. These cells establish the mesoder-
mal elements that later developed into the face.
Development of the nose and its cavities occurs
between 3 and 10 weeks of life [5]. At 24 days of
life, the face consists of a superior frontal process,
paired bilateral mandibular processes caudal [6].
The maxillary and mandibular processes are sepa-
rated by the primitive mouth (stomatodeum) [5].
The nasal alae are formed by fusion of the nasal
lateral and medial processes [6]. The medial nasal
processes fuse in the midline with the frontal pro-
minence and result in the formation of the fronto-
nasal process that gives origin to the columella,
philtrum, upper lip, nasal bones, cartilaginous nasal
capsule, and superior alveolar ridge [6]. The nasal
placodes, which are local thickenings of surface
ectoderm, develop laterally to form the frontal
process between the lateral and medial nasal pro-
cesses during the 4th week of life [5]. The nasal
placodes invaginate to form the nasal pits during the
5th week of life. The nasal pits form the nostrils.
Deeper within the face, fusion of the maxillary and
frontal processes forms the rudimentary palatal
shelves at 6 weeks of life. Cells within the nasal
pits continue to migrate posteriorly to form the
buccal cavity by the rudimentary palatal shelves
240
Fig. 3 CT scan shows complete absence of nasal and paranasal cavities.
[7]. By the 9th week of life, the cartilaginous nasal
septum, which results from persistence of neural
crest cells between the nasal cavities, directly over-
lies the buccal cavity [7]. The palatal shelves of the
maxillae migrate medially as the septum migrates
inferiorly. By the 10th week of life, the palatal shelves
and the inferior septum fuse to form the secondary
palate [5]. At this point, the posterior nasal cavities
are separated from the buccal cavity by the bucco-
nasal membrane. This membrane ruptures, establish-
Fig. 4 Preoperative photograph.
T. Marinov et al.
ing communication between the nasal and buccal
cavities. The primary choanae which are formed as
the nasal cavities canalise, are promptly filled by
epithelial plugs. These plugs eventually resorb to
form the secondary (permanent) choanae and estab-
lish the patency of the nasal cavities [7]. It has been
traditionally accepted that the epithelial plugs are
present until the 24th week of life [5]. However, other
evidence suggests that these plugs may actually
resorb as early as the 15th week of life [7].
Fig. 5 Intraoperative photograph shows the planned
intervention.
A case of congenital total arhinia
Fig. 6 Final intraoperative photograph.
The pathogenesis of arhinia is poorly understood.
It has been postulated that the lack of development
of the nose results from failure of the medial and
lateral nasal processes to grow, but it is also possible
that overgrowth and premature fusion of the nasal
medial processes result in formation of an atretic
plate. Arhinia may also result from lack of resorption
of the nasal epithelial plugs during the 13th15th
week of gestation. Another explanation may be
related to abnormal migration of neural crest cells
to this region, resulting in aberrant flow of the
multiple mesoderm structures required establishing
the nose and its cavities normally [3].
In a review by Nishimura [7], 14 published cases of
congenital absence of the nose were summarised.
Subsequently, Nothen et al. [8] and Muhlbauer et al.
[9] have reported additional cases of arhinia. The
patient described by Muhlbauer et al. [9] had arhinia
in conjunction with hereditary syndrome of multiple
congenital abnormalities, including alobar holopro-
sencephaly and cleft lip and palate [9]. The associa-
tion between arhinia and cleft lip and palate is well
Fig. 7 Postoperative photograph.
241
established [7]. One reported case of arhinia was
associated with microphthalmia on the right and
anophthalmia on the left [11]. Two previously
reported patients had chromosome 9 abnormalities
[8]. One child had Treacher-Collins-Syndrome and
arhinia [12]. The remaining patients had no asso-
ciated congenital malformations and were other-
wise healthy [9,12].
The clinical consequences of congenital arhinia
are severe airway obstruction and inability to feed.
Placement of an oral airway should be performed in
an acute setting [13]. A surgically created nasal
airway or a tracheotomy is an important part of
early management, as either allows the infant to
feed orally and precludes the complications asso-
ciated with orogastric tubes [14]. Most authors
agree that surgical reconstruction of the external
nose and inner cavities should be delayed at least
until pre-school years, when facial development is
nearly completed [9,10,15]. One case has been
reported in which simultaneous reconstruction of
both the internal and external nose was undertaken
in the new-born period [8].
This article presents a case of congenital arhinia
associated with facial anomalies and external nose
reconstruction. Since there were no life-threaten-
ing anomalies and complications the child survived
and we could follow him up. It is highly likely that
this case might have been the result of the failure of
medial and lateral nasal processes to grow, which
was the underlying pathogenesis. Restricted midfa-
cial growth is secondary to the loss of the midfacial
growth centers. Staged reconstruction of external
nose and the nasal passage is required. Vertical
distraction osteogenesis may be a beneficial step
in the overall reconstructive program [13]. This
provides for additional bone and soft tissue for both
improved aesthetic facial proportions and later sur-
gical procedures. In our case the external nose was
constructed during with a forehead flap and a rib
graft [16]. The nasal cavities would be drilled out
and lined in the second stage. In a third stage, the
cavities would be amplified, and silicone tubes
introduced for at least 1 year [5,17].
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