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Craniofacial growth and development of Turner syndrome children (Inne Suherna S. et al.)
127
Craniofacial growth and development of
Turner syndrome children
Inne Suherna Sasmita*, Arlette Suzy Puspa Pertiwi*, M. Harun Achmad**
*Department of Pediatric Dentistry Faculty of Dentistry Universitas Padjadjaran
**Department of Pediatric Dentistry Faculty of Dentistry Universitas Hasanudin
ABSTRACT
Turner syndrome is a genetic disorder which characterized by specic physical appearance and
the lost of one of sex chromosome in females. The most frequents chromosome constitution in Turner
syndrome is 45X. This disorder may cause an interruption of growth and development in the whole body
as well as in the craniofacial region. The oral manifestations of Turner syndrome are micrognathia, high
palate, malocclusion, and premature eruption of rst permanent molars. This paper will discuss the oral
manifestations associated with the craniofacial growth and development of Turner syndrome.
Key words: Turner syndrome, sex chromosome, craniofacial
INTRODUCTION
Turner syndrome is a genetic disorder in
female which characterized by special physical
features and the lost of all or a part of secondary
sex chromosome. The disorder may lead to a
group of physical nding including congenital
lymphoedema, short stature, and gonadal
dysgenesis.1,2
History of Turner syndrome begun at 1938
when Henry Turner, an endocrinologist from
Oklahoma, found seven patients age about fteen
to twenty three came with a problem of dwarsm
and delayed sexual development. Patient did not
respond to the therapy with pituitary extract.3
Incidence of Turner syndrome is 1:2000-
2500 live birth female. It is a rare disorder and
characterized by decreased sexual development
at puberty. Other features are abnormalities
in the heart, kidneys, and other malformations
since the syndrome affects many system organ.3,4
Increase of chromosome abnormality commonly
occurs in children who are born from parents with
advanced age, but this does not occur in turner
syndrome cases. Main cause of the lost of all or a
part of X-chromosome is unknown (Fig. 1).5 Short
stature is a common sign of Turner syndrome and
occurs almost 100% of cases. Short stature may
cause an increase of unbalance body weight,
which may lead to a high risk of obesity related
disease. Growth deciency occurs especially in
lower extremities as oppose to upper resulted a
short feet appearance.3
Ovarian dysgenesis is related to the abnormal
growth of ovary and occurs in 95% cases. This may
lead to a delayed or lost of sexual development
when the patient enters puberty. Incidence of
patients who have spontaneous puberty signs
at adolescent is 12%. Patients usually develop
amenorrhea. Several teenagers will experience
Correspondence author: Inne Suherna Sasmita, Department of Pediatric Dentistry Faculty of Dentistry Universitas Padjad-
jaran Jl. Sekeloa Selatan No. 1 Bandung, West Java-Indonesia, Tel./Fax: +6222-2504985/2532805
128
Padjadjaran Journal of Dentistry 2009;21(2):127-131.
Figure 1. Characteristic of Turner syndrome.3
Figure 2. Comparative size of craniofacial in Turner
syndrome and normal population.10
Figure 3. Patients’ prole.3
Figure 5. Enamel hypoplasia of Turner syndrome child.11
Figure 6. Panoramic radiograph of Turner syndrome at the
age of 8 showed premature loss in primary dentition and
premature eruption od permanent dentition.
Craniofacial growth and development of Turner syndrome children (Inne Suherna S. et al.)
129
menstruation then there was a disturbance in the
gonad which may lead to stop growth of ovary.
Teenagers with spontaneous pubertal development
have the risk of premature menopause.3
Growth and development of Turner
syndrome is later than normal girl in almost all
periods. Delayed in the increase of body height
is the main reason for a parent to bring their
undiagnosed child to seek for help. After birth,
patients have a height of a few centimeters below
normal compare to normal babies. The rate of
increase body height is later after two years of
age, leading to short stature.5
Tu r ne r s y n dr o m e i s d i ag n o s ed b y g e ne t ic
examination, since it is a genetic disorder. Diagnostic
test is done by examining chromosome pattern in the
blood samples which called caryotiping. Prenatally,
diagnosis can be done by amniocentesis.3
Craniofacial growth and development of Turner
syndrome
Child with Turner syndrome has a different
growth and development compare to normal child,
generally. Bone formations undergo abnormal
process. The abnormalities are delayed skeletal
maturation, small bone, and reduced of Bone
Mineral Density (BMD). Factors which affecting
the abnormal growth and development are mainly
cause by hormone and genetic.3
Craniofacial of Turner syndrome compare
to normal child shows delayed development of
cranium, reduced size of craniofacial complex,
facial retrognathia, increased incisors overjet,
reduced overbite, class II malocclusion, and
abnormality of jaws relationships.6
Disturbance of bone growth in Turner
syndrome is the result of skeletal dysplasia
which may lead to short stature, slight ephyseal
dysplasia, and abnormal bone formations. Skeletal
dysplasia occurs because there is deciency in the
gene that brings SHOX. These also lead to delayed
bone formation and short stature.1
SHOX protein is a group of cells which play
an important role in chondrogenesis process.
One of the reason why Turner syndrome child
have short stature is because one or a part of X
chromosome is missing leading to the lost of active
SHOX.3 Blocked chondrogenesis process may also
block the growth of craniofacial, since the growth
of skull and jaws insist of three main mechanism,
which are the growth of cartilage, suture, and
periosteal and endosteal.7
Cartilage growth in the skull is mainly
occurs in basis cranii, nasal septal, and mandibular
condyles. Cartilage growth at spheno-occipital
synchondrosis may increase the antero-posterior
dimension of basis cranii. Every area of cartilage
growth plays an important role in the growth of
Figure 4. Palatal arch of Turner syndrome: (1) Normal; (2) Mild; (3) Moderate; (4) Severe.3
12
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Padjadjaran Journal of Dentistry 2009;21(2):127-131.
head, especially in the rst year of life.7
Gonadal dysplasia which occurs in Turner
syndrome may lead to a deciency in the secretion
of estrogen hormone. The hormone is produce
by ovary and stimulate the development of sex
organs in females, breast, and variable secondary
sex characteristics. It also affects to the growth
and development of bone. Estrogen increased
the osteoblastic activities and affects the growth
of skeletal bone by causing the early union of
ephysise with the body of long bones.8
In normal individuals, the secretion of
estrogen hormone will reduce along with the
increase of age and stops after menopause.
Deciency in estrogen level may result as reduced of
osteoblastic activities in the bone, bone matrix, and
the deposit of calcium and phosphate in the bone.8
Generally, Turner syndrome patients
experience the deciency of estrogen before,
during, and after puberty. Estrogen in the
prepuberty period function as in the increase
of bone size which does not happened in Turner
syndrome. Low secretion of estrogen may cause
delayed bone growth.9
Study of 32 Turner syndrome children aged
7-16.7 compare to 33 normal girls aged 10.2-
16.7 by Midtbo and Halse10 showed different size
of calvaria and face. Calvaria and face in Turner
syndrome girls showed a smaller size (Fig. 2).
This morphology is characterized by at cranial
angle, shortened posterior cranial base, facial
retrognathy, and rotation of jaws. These results
showed a deviation in the pattern of the size and
morphology of craniofacial in this syndrome which
already exists since chilhood.
Jaws growth and development of Turner
syndrome
Sixty percent of Turner syndrome patient
have micrognathia. Generally, this occurs in
mandible, thus showed a feature that lower jaw is
retrognathia and upper jaw is normal or prognathia
(Fig. 3). Another feature showed an abnormality
in the growth of palate. This shows a high palatal
arch in the form of U or V (Fig. 4). This case occurs
in about 80% Turner syndrome and may lead to
skeletal class II malocclusion.3,11
Dental implications of Turner syndrome
Malocclusion is one of clinical sign of
Turner syndrome. Another dental implications are
smaller size of tooth crown, abnormal quantity of
roots, enamel hypoplasia (Fig. 5), thin dentine,
posterior open bite, cross bite, premature
eruption of permanent dentition, and delayed
tooth maturation.11,12
Dental eruption in Turner syndrome girls
usually 3.7 months faster than normal. Premature
eruption in permanent dentition especially occurs
in rst molars at the age of 4, normally at the age
of 6 (Fig. 6).11,13
Management of Turner syndrome
Generally, Turner syndrome patients are
under supervision by endocrinologist for routine
check up and therapies. Therapy for Turner
syndrome includes growth hormon therapy
followed by estrogen injection. Growth hormone
therapy is aimed to enhance linear growth.
Estrogen therapy is necessary to make Turner
syndrome girl more feminine, delay osteoporosis
process, and stimulate the development of
secondary sex characteristic.3
Other than main therapy, which are growth
hormone and estrogen therapy, endocrinologist
also give a supportive therapy. The later consist
of anabolic steroid, antihypertension, vitamin and
mineral, and thyroid therapy.14
CONCLUSION
Turner syndrome causes a disturbance in
growth and development of the body which affects
the growth and development of craniofacial
complex. Growth hormone therapy gives a
signicant result in the growth and development of
bone, but it does not correct the abnormalities in
dental morphology and eruption. The management
of craniofacial abnormalities in Turner syndrome
can be managed by the cooperation of pedodontist,
orthodontist, and endodontist.
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