Aesth Plast Surg (2012) 36:946–948
DOI 10.1007/s00266-012-9912-3
CASE REPORT
Congenital Agenesis of All the Nasal Cartilages
Mehdi Bakhshaee • Mehdi Poursadegh •
Mohammad Reza Afzalzadeh
Received: 28 October 2011 / Accepted: 8 April 2012 / Published online: 31 May 2012
Ó Springer Science+Business Media, LLC and International Society of Aesthetic Plastic Surgery 2012
Abstract With the exception of septal deviation, con-
genital anomalies of the nasal cartilages constitute a small
fraction of all congenital nasal anomalies. This report
presents a patient with isolated agenesis of all the nasal
cartilages, which has never been recorded previously.
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Keywords Congenital agenesis
Congenital nasal
anomalies
Nasal cartilage
Case Report
A 6-year-old girl was referred to our clinic with a report of
a flattened nose (Fig. 1). Her medical history showed no
maxillofacial trauma, nasal or midface surgery, or previous
treatment for any nasal problems. Her parents indicated
that they noticed this deformity a few months after her birth
and that the problem persisted as she grew up.
Palpitation of her nose indicated no cartilaginous
structures in the external portion of the nose or the septum,
M. Bakhshaee (&)
Ear, Nose and Throat Research Center, Emmam Reza Hospital,
Faculty of Medicine, Mashhad University of Medical Sciences,
Mashhad, Iran
e-mail: mehbakhsh@yahoo.com; Bakhshaeem@mums.ac.ir
M. Poursadegh
M. R. Afzalzadeh
Otorhinolaryngology-Head and Neck Surgery Department,
Imam Reza Educational Hospital, Mashhad University of
Medical Sciences, Mashhad, Iran
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CRANIOFACIAL/MAXILLOFACIAL
suggesting that the cartilages had never been there and that
the problem was congenital. There was no family history of
the condition, no evidence of similar abnormalities in the
parents, and no history of maternal drug use or infection
during gestation. The blood test results were negative for
syphilis (PRP and TPHA), and the patient had no history of
inhalation of irritants such as cocaine or acidic fumes.
Physical examination demonstrated a collapsed nose, a
retracted columella, and a short bony dorsum with low
projection. The quadrangular septal cartilage and the lower
and upper lateral cartilages (LLC/ULC) were absent. The
nose was composed of fleshy alar lobules with deep creases
between each lobule and the alar portion of the nose
bilaterally, perhaps due to the lack of LLCs. The nasal tip
was completely collapsed and lacked definition and pro-
jection, with creases in the region where the soft triangle
normally is located. The vertical dimension of the upper lip
was increased relative to the projection of the nose.
The use of ultrasound and computed tomography (CT)
scanning confirmed the absence of the quadrangular septal
cartilage, ULC, and LLC, but there were no other anom-
alies in the craniomaxillofacial region (Fig. 2). A system-
atic examination of the patient’s organs showed only a
small ventricular septal defect, with no other abnormalities
in the lungs, liver, kidneys, extremities, or genitals.
Discussion
Facial defects are thought to arise due to deficiencies in
neural crest cell development, which can include insuffi-
cient mesenchyme migration, cell necrosis, or decreased
cell proliferation, and may be caused by genetic or envi-
ronmental factors [1]. During development of the nose and
palate, the mesenchymal cells of the neural crest extend
Aesth Plast Surg (2012) 36:946–948
Fig. 1 Photographs of the patient’s nose from different angles
posteriorly and grow down into the oral cavity to form the
primary nasal septum. The palatal shelves then extend
medially from the lateral maxillary processes until they
come into contact and fuse with the nasal septum at the
midline. The cartilage that forms this ‘‘nasal capsule’’
becomes the foundation for the bones that form the front of
the upper half of the face, which form through gradual
enchondral ossification of the nasal capsule [2].
The roof and walls of the nasal capsule form the frontal
processes of the maxillary bones, the premaxillary bone,
the nasal bones, the lacrimal bones, and the palatine bones,
but the nasal septum does not become fully ossified. The
superior part of the septum becomes the perpendicular
plate of the ethmoid bone, whereas the posterior part of the
inferior aspect becomes the vomer bone. The anterior
Fig. 2 CT scan of the nose and paranasal sinuses
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section remains as cartilage to form the anteroinferior
quadrangular septal cartilage. The only other cartilages of
the nasal capsule that remain in adults are the ULC and
LLC, which surround the nostrils [3, 4].
The reported patient’s history and our findings from a
physical and radiologic evaluation suggest that the absence
of her nasal cartilage is a congenital deformity. In con-
sidering our diagnosis, we acknowledge that the gold
standard imaging technique to use to reach a definitive
conclusion would be magnetic resonance imaging (MRI),
but this was not possible at the time of consultation. It is
possible that some limited cartilage is present that may not
have been detected in the CT scan. However, we reached
our conclusions based on the data we were able to collect,
which indicated a complete absence of cartilage. Even if
some cartilage remains in the patient’s nose, this case still
is an interesting presentation of a new or very rare condi-
tion that requires reconstructive surgery.
To the best of our knowledge, congenital absence of all
the nasal cartilages has not been reported in the literature.
The only other similar report, by Robinson and Hilger [5],
describes a case of Binder’s syndrome, which is a con-
genital malformation characterized by retrusion of the
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midface with a flat, small nose and results from maxillary
hypoplasia. In Robinson and Hilger’s patient, the ULC
remained, and anomalies in other cartilages including the
aural cartilage, larynx, and trachea also were detected.
In the reported case, the only anomaly observed is the
complete absence of the nasal cartilages. The patient has a
normal maxilla and nasal bones with a balanced midface
profile except for the deformity of the nose. Although it is
impossible to define the exact embryologic mechanism, the
deformity observed in our patient may have been caused by
arrest in formation, inadequate ossification, or reabsorption
of the anteroinferior part of the primitive nasal septum [6].
At the time of consultation, we did not obtain samples
for genetic analysis. However, it would be interesting to
observe whether this patient shows evidence of genetic
traits linked to other congenital nasal anomalies or whether
this is definitely a new syndrome. Our major question at
this writing is how to reconstruct the deformity, and we
invite surgeons with experience in this type of facial sur-
gery to contact us with advice on how to proceed.
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Aesth Plast Surg (2012) 36:946–948
References
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