The Journal of International Medical Research

2003; 31: 236 238

Oral Findings in a Typical Case of

Achondroplasia
P CELENK1, S ARICI2

AND

C CELENK3

1Department

of Oral Diagnosis and Maxillofacial Radiology, 2Department of Orthodontics,

and 3Department of Radiodiagnostics, Ondokuz Mayis University, Samsun, Turkey

We report a 16-year-old boy who had all the

typical manifestations of achondroplasia
but also had a skeletal and dental class III
malocclusion, a narrow maxilla, macroglossia and an open bite between the
posterior teeth. The narrow maxilla and
bilateral cross-bite were treated with
rapid palatal expansion. The open bite
KEY WORDS: ACHONDROPLASIA; RETROGNATHIC

Introduction
The term achondroplasia was first used by
Parrot in 1878. The incidence of this
condition varies from one in 26 000 to one in
66 000 births, but it is one of the most
common types of dwarfism.1 Heterozygous
and

homozygous

forms

occur.

The

homozygous form is lethal in the neonatal

period, whereas the heterozygous form is
autosomal dominant, affecting males and
females equally. Manifestations of disease
include short stature, a lordotic lumbar
spine, shortening of the arms and legs, short
stubby trident hands, prominent buttocks
and a protuberant abdomen.2 Craniofacial
malformations

include

an

enlarged

calvarium with hydrocephaly and frontal

bossing, a depressed nasal bridge, a short
posterior cranial base, a small foramen
magnum, a retrognathic maxilla and a
normal

mandible.2

Reported

dental

and irregular teeth were corrected with

fixed orthodontic treatment, taking
account of the macroglossia. This case is
of clinical interest since dental class III
malocclusion, posterior open bite, macroglossia and benign migratory glossitis have
not
previously
been
reported
in
achondroplasia.
MAXILLA;

MACROGLOSSIA; OPEN

BITE;

CROSS-BITE

anomalies include protrusive maxillary

incisors,
anterior
open
bite
and
3

5
malocclusion.

Case report
A 16-year-old boy with achondroplasia was
referred to our clinic with crowded teeth and
phonetic problems. He had been diagnosed
with achondroplasia 2 months after birth. At
7 years of age he underwent bilateral
lengthening of the lower limbs by 5 cm.
Myringotomy and tube placement were
performed at the age of 8 years.
The patient appeared to be well adjusted,
healthy and intelligent. He was 115 cm tall at
the initial visit. Typical of achondroplasia, he
had a concave facial soft tissue profile, a large
calvarium with a bulging forehead, saddleshaped nose and internal strabismus of
the eyes (Fig. 1). Plain radiographs of the
thoracolumbar vertebra, pelvis and extremities
revealed narrowing of the spinal canal in the

Downloaded from imr.sagepub.com by guest on November 22, 2016

236

P Celenk, S Arici, C Celenk

Oral findings in achondroplasia

FIGURE 1: Lateral view of the patient

with achondroplasia
lumbar region, backwards tilt of the pelvis and
hip joints (resulting in a rolling gait), squareshaped flat non-flared pelvic bones with a

tombstone configuration, flattened iliac wings,

a decreased acetabular angle and a small
sacrosciatic notch (Fig. 2). In the extremities,
rhizomelic shortness of the long bones, a
trumpet appearance of the shortened long
bones, a short ulna with a thick proximal end
and a slender distal end, and brachydactyly
were observed.
A deviation to the left side was identified on
examination of the temporomandibular joint.
Intraorally, macroglossia, benign migratory
glossitis, gingivitis, buccal cross-bite and a
posterior open bite were observed (Fig. 3).
Dentally, the patient had a class III molar
relation with crowding at the maxillary
anterior region. The teeth were fully erupted
except for the third molars. The size, number
and form of the teeth were normal.
A panoramic radiograph showed completed
crown formation of the developing third molars
and normal skeletal and dental structures.
Cephalometric analysis of the lateral skull
radiograph revealed a posteriorly positioned
maxilla relative to the nasion, a short cranial
base, a normal mandible, a decreased upper
facial height, an anteriorly tipped up palatal
plane, and a skeletal class III jaw relation
between the maxilla and mandible. Dentally,
the maxillary incisors were proclined relative to
the Frankfort horizontal plane, and the
mandibular incisor angulations were normal
relative to the mandibular plane.

FIGURE 2: Lumbosacral radiography

revealed several characteristics typical
of achondroplasia

FIGURE 3: Intraoral view of the

posterior open bite in the patient with
achondroplasia

Downloaded from imr.sagepub.com by guest on November 22, 2016

237

P Celenk, S Arici, C Celenk

Oral findings in achondroplasia
Orthodontic treatment was initiated with
a Hyrax (Leone, Florence, Italy) rapid
palatal expansion appliance to correct the
buccal cross-bite and to gain space for the
palatally placed lateral incisors. Tooth
extraction was avoided due to the
macroglossia. The upper and lower teeth
were then bracketed, and arch wires placed
for alignment and levelling. After 24 months
of treatment, the malocclusion was corrected
and the posterior open bite closed, and
retention treatment was initiated.

Discussion
Achondroplasia is caused by quantitatively
defective endochondral bone formation.
Most cases (80%) result from a spontaneous
mutation of a single gene on chromosome 4.
The remaining 20% of cases are transmitted
in an autosomal dominant fashion. The
genetic defect results in a reduction in
functional fibroblast growth factor receptor-3
(FGFR-3). DNA studies have revealed point
mutations in the FGFR-3 gene in both

heterozygotes and homozygotes.1 In our

patient, however, no chromosomal anomaly
was detected.
There are few studies in the literature
reporting the dentofacial findings in
achondroplasia, even though it is not a rare
condition and its molecular basis has recently
been discovered.1,3 5 The present case showed
the typical systemic manifestations and oral
findings of achondroplasia. None of the
former studies, however, have reported a
posterior open bite, macroglossia or benign
migratory glossitis.4,5 Two previously reported
cases showed a dental class I and II molar and
incisor relationship on a skeletal class III
structure. The case reported here had skeletal
and dental class III malocclusion.6,7
Many skeletal malocclusions can be treated
by using pre-pubertal and pubertal growth
phases. In achondroplastic patients, however,
the treatment choices may be limited since
growth potential cannot be used in the same
way. The presence of macroglossia also limits
the treatment modalities by contraindicating
tooth extraction.

Received for publication 11 February 2003 Accepted 7 March 2003

Copyright 2003 Cambridge Medical Publications
References
1 Shiang R, Thompson LM, Zhu YZ, Church DM,
Fielder TJ, Bocian M, et al: Mutations in the
transmembrane domain of FGFR3 cause the
most common genetic form of dwarfism,
achondroplasia. Cell 1994; 78: 335 342.
2 Gorlin RJ, Pindborg JJ, Cohen MM (eds):
Syndromes of the Head and Neck, 2nd edn. New
York: McGraw-Hill, 1976.
3 Shinohara M, Funakoshi Y, Takaishi Y, Hieda T:
A case report on achondroplasia and its dental
findings (in Japanese). Shoni Shikagaku Zasshi
1991; 29: 159 166.
4 Brewer
AK:
Achondroplasia:
general

description and dental problems. Quintessence

Int 1979; 10: 5 12.
5 Brook AH, Winter GB: Dental anomalies in
association with achondroplasia. Report of two
cases. Br Dent J 1970; 129: 519 520.
6 Dunbar JP, Goldin B, Subtelny JD: An American
Board of Orthodontics case report. Correction of
class I crowding in an achondroplastic patient.
Am J Orthod Dentofacial Orthop 1989; 96:
255 263.
7 Ohba T, Ohba Y, Tenshin S, Takano-Yamamoto
T: Orthodontic treatment of class II division 1
malocclusion in a patient with achondroplasia.
Angle Orthod 1998; 68: 377 382.

Address for correspondence

Dr P Celenk
Department of Oral Diagnosis and Maxillofacial Radiology, Ondokuz Mayis University,
55139, Samsun, Turkey.
E-mail: pcelenk@omu.edu.tr
Downloaded from imr.sagepub.com by guest on November 22, 2016

238