DOI 10.3349/ymj.2009.50.2.

289
Case Report pISSN: 0513-5796, eISSN: 1976-2437 Yonsei Med J 50(2):289-292, 2009

Dental Findings in Cornelia De Lange Syndrome

Aslihan Soyal Toker,1 Sinan Ay,2 Hasan Yeler,1 and Ilhan Sezgin3
1
Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Cumhuriyet University, Sivas; 2 Department of Oral and Maxillofacial Surgery, Faculty of
Dentistry, Gaziantep University, Gaziantep; 3 Department of Medical Biology and Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a
series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac
malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We
actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the
symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the
typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the
symptoms of the Hutchinson’s syndrome, which had never been reported before.

Key Words : Cornelia de Lange, Brachmann de Lange, syndrome, Hutchinson’s teeth, dental caries

Received: August 22, 2003

Revised: April 23, 2004 INTRODUCTION
Accepted: April 23, 2004
Corresponding author: Dr. Sinan Ay, Cornelia de Lange syndrome (CDLS), first described in its full clinical presentation by Dr.
Department of Oral and Maxillofacial Surgery, Cornelia de Lange in 1933, 1-4 is a multisystem syndrome involving congenital
Faculty of Dentistry, Gaziantep Universitesi, malformations, growth retardation and neurodevelopmental delay. Formerly, Brachmann
Dis Hekimligi Fakultesi, ADCH ve Cerrahisi AD, in 19161-3 had observed a child at autopsy with similar features as well as additional
27310, Gaziantep, Turkey.
findings of upper limb deficiencies. For the reason of their contributions, both
Tel: 90-342 3610610, Fax: 90-342 3610610,
Brachmann’s and de Lange’s names have been attached to the name of this syndrome.1-3
E-mail: sinanay@gantep.edu.tr
This syndrome is a rare malformation and retardation syndrome of unknown etiology. It
has characteristic abnormalities, including microcephaly, growth failure, anomalies of
development of the hands and feet, short stature, excessive growth of hair, heavy eyebrows,
synophrys (growth of eyebrows across the midline to form one large confluent eyebrow),
long eyelashes, strabismus, small nose with anteverted nares, long philtrum, micrognathia,
downturned mouth, hypoplastic nipples and umbilicus, flexion contracture of elbows,
micromelia and hirsutism. The clinical diagnosis of this syndrome is based mainly on a
group of these features.1,3-7 Most cases are sporadic, although autosomal dominant inheri-
tance with incomplete penetrance has been suggested. Severe growth and mental retardation
are common. The list of the head and oral manifestations are presented in Table 1.
The diagnosis of the syndrome is based solely on the clinical grounds; there are no
biochemical or chromosomal markers for CDLS yet. This lack of biological markers
makes determination of its incidence difficult.6 The duplication or partial trisomy of
chromosome 3 has been pointed out as a probable cause of this syndrome, and dominant
inheritance is most likely involved.8
The patients are usually uncooperative due to their mental retardation. Hyperactive
behaviour, autism and neurosensory auditory disorders are common.9,10 The course is usually
marked by initial hypertonicity, low-pitched weak cry, malnutrition and behavioral problems,
© Copyright: with marked mental deficiency. In classical cases there is rarely any difficulty in making the
Yonsei University College of Medicine 2009 diagnosis, but in mildly affected cases, it may be difficult to feel sure about the diagnosis.1

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 Aslihan Soyal Toker, et al.

Table 1. Head and Oral Manifestations of CDLS

Cranium Microbrachycephaly
Eyes Bushy eyebrows and synophrys
Long curled eyelashes
Ptosis and nystagmus
Strabismus
Nose Small nose
Anteverted nostrils
Mouth Fish-like mouth
Thin upper lip
Perioral cyanosis
High arched palate
Long philtrum Fig. 1. Facial appearance of the patient.
Cleft palate
Disturbance of nasopharyngeal function
Mandible Micrognathia, macroglossia
Spurs in the anterior angle of the mandible
Prominent symphysis
Teeth Microdontia (deciduous tooth)
Delayed tooth eruption (deciduous tooth)
Partial anadontia
CDLS, Cornelia de Lange syndrome.

CASE REPORT

In this particular instance, we did have a 10-year-old male Fig. 2. Radiological appearance of the hands.
patient with developmental disorder and speech impediment,
who came to our office for dental pain. Initially, we noted that
our patient was the son of a 29-year-old mother with a history
of premature births. The male baby weighed about 2,000 g
when he was born. He had also suffered malnutrition and
bronchopneumonia and he had received the proper treatment
during the first three months after delivery. We also recorded
that our 10-year-old patient had been unable to talk and walk
until he was 2.5 years old. The parents of this patient are
biologically related and their first-born child died actually only
6 months after the birth. The cause of the death was pneumonia.
We also learned that our patient had quite a healthy sister.
During the physical examination of the patient, we recorded
this data as follows:
Weight: 19.3 kg Fig. 3. Radiological appearance of the feet.
Height: 110 cm
Head circumference: 47 cm downward turned angles of the mouth, micrognathia, short
Body temperature: 36˚C neck, fairly small feet and hands, the 5th finger with bilateral
Pulse: 108 b/m (beats/minute) clinodactyly and some fusiform like fingers, bilateral micro-
His face seemed dysmorphic; he had thick and curly hair melia on his 4th and 5th toes, hypogonadism and some hirsutism
eyebrows meeting at the midline, and he had long and curved on his arms and legs. When we got the X-ray examination of
eyelashes (Fig. 1). His ears were abnormally low placed, they the patient, we found clinodactyly on the right 4-5th toes, on the
were dysplastic, and his mandibular symphysis was bumpy. He left 2-3rd toes and on the 5th finger (Figs. 2 and 3).
also had anteverted nostrils, a small nose, thin lips with the The chromosome analysis from the peripheral blood of the

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 Cornelia De Lange Syndrome

ously described in CDLS (Fig. 5).

Based on our findings, we performed a general anesthesia in
order to extract the teeth that had initially been diagnosed with
the extraction indications without any treatment. There were no
complications throughout the anesthesia and/or intubation
process. Furthermore, we confirmed that there were no compli-
cations during the postoperative period.

DISCUSSION

Cornelia de Lange or Brachmann de Lange syndrome is a rare

congenital disorder of unknown aetiology. The possibility of
diagnosing this syndrome at birth is about 1 out of 40,000.9 This
syndrome is related to mental retardation, skeletal defects
(including brachycephaly, hypoplastic mandible and cleft
palate), ocular defects, epilepsy and varying degrees of hirsutism.
Fig. 4. Hirsutism on the back. The eye brows may be joined across the bridge of the nose
(synophrys) in addition to hypertelorism and antimongoloid
slant of the eyes, upward-facing nostrils, and thin lips, which
made us become aware of the CDLS.5,9,11,12 In our opinion, the
patient presents the typical facial characteristics of CDLS.
For our diagnosis process, the most essential diagnostic
parameters seem to have been observed in respect of the face
and limbs. The hypertrichosis and facial features concerning the
long philtrum, thin lips and downturned angles of the mouth,
anteverted nostrils and micrognathia are usually noted even in
mildly affected, fair complexioned children. Based on the
supportive, mild limb findings, such as small hands and feet,
proximally placed thumbs, single palmar creases and limitation
of the elbow extension, diagnosis is usually possible with a
reasonable margin of error.2,11 The gastroesophageal reflux and
Fig. 5. Intraoral appearance of the patient.
sensorineural hearing loss are also common complications of
the condition.4,13 CDLS is generally accepted as being charac-
patient was performed showing a normal karyotype (46, XY). terized by mental retardation associated with a characteristic
The patient scored 55 on the intelligence quotient (IQ) test, group of physical malformations. Most cases described include
which fell into the interval of 44-75. He did not have the severely deformed structures, although many of the physical
muscular capacity that a 10-year-old should have nor could manifestations may be present in members of a normal popula-
communicate. The patient was only able to understand the basic tion. The presence of severe subnormalities has usually been a
words and some phrases. During evaluation of the heart of the major factor in making this diagnosis.10,14
patient, the echocardiography parameters were found to be Diagnosis and counseling for the CDLS is complicated by
normal. We did, however, found a chest deformation (pectus the phenotypic variability and lack of a definitive diagnostic
excavatus), and the patient did have some rashes and skin marker. Although most cases appear to be sporadic, several
marks on his white-pale skin. His back was short, with the families have been reported to demonstrate autosomal dominant
hairline being low, and he also had the hypoplastic nipple and inheritance.15 The clinical phenotype has been shown to be
umbilicus. He had cutis marmaratus and hirsutism on the back quite variable. The full phenotypic spectrum will not be evalu-
(Fig. 4). We found that a low-pitched cry was frequently noted. ated until the gene is identified and a possibility of molecular
During the oral examination of the patient, we found confirmation of the diagnosis appears.13,15
micrognathia and delayed eruption. The upper lateral teeth, Some dental abnormalities reported earlier include delayed
upper right canine and lower canines had not been erupted. In eruption, spacing and macro- or microdontia.12 Yamamoto et
addition, we found an unusual finding consistent with a lot of al.,7 have reported two cases with delayed tooth eruption and
decay and cavities on the upper central teeth, which was similar microdontia, with one of these cases being a partial anadontia.
to the Hutchinson’s syndrome. This trait has not been previ- In our case, we have found micrognathia and delayed eruption.

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 Aslihan Soyal Toker, et al.

Unfortunately, we were unable to take orthopantomograph, syndromes must be further investigated.

because the patient did not co-operate, nor we could measure In conclusion, all the findings in this study may lead us to
microdontia, because of many decayed teeth and the eruption believe that there is a possible connection between the symptoms
being incomplete. The upper and lower permanent first molars of CDLS and the Hutchinson’s syndrome. We strongly recom-
and deciduous molars had to be also extracted due to excessive mend that the existence of such a relationship should be
caries. More distinctively, as compared to the previous cases, in investigated in the future.
our case we have pinpointed a formation, like Hutchinson’s
teeth, on the upper central teeth.
REFERENCES
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between the oral manifestations of this syndrome and other

292 Yonsei Med J http://www.eymj.org Volume 50 Number 2 April 2009