Dental Management of Cornelia De Lange Syndrome: Case Report and Literature Review Cornelia De Lange Syndrome

Case Report

J Dent App. 2014;1(4): 75-77.

Dental Management of Cornelia De Lange Syndrome: Case Report and Literature Review Cornelia De Lange Syndrome

Mariana C Morales-Chávez*

Pediatric Dentist, Magister in Special Care Dentistry. Agreggate Professor and Director of the Dental Research Center, Santa Maria University, Caracas, Venezuela

*Corresponding author: Mariana C Morales-Chávez, Avenida Trinidad con Calle Caracas. Centro Profesional Vizcaya. Piso 3. Oficina 37. Colinas del Tamanaco. Caracas, 1061. Venezuela

Received: June 30, 2014; Accepted: September 16, 2014; Published: September 18, 2014


Cornelia de Lange syndrome (CLS) occurs in one out of 10.000 individuals. It is mainly characterized by a delay in growth and development, hirsute, facial dysmorphia, upper-extremity malformation, cardiac defects and dental problems. The aim of this paper is to describe the dental management of a 20 year-old male with CLS, who had multiple dental problems such as caries, periodontal disease, malocclusion and an impacted premolar in the maxilla which produce pain and self-injurious behavior. Physical findings were similar to those previously described by the literature. Dental treatment was carried out under sedation due to the patient's inability to cooperate during dental treatment. After 1 year of follow-up there were no new caries, the periodontal health had improved and the auto aggressive behavior was considerably reduced.

Keywords: Cornelia de Lange syndrome; Brachmann de Lange syndrome; Sedation; Surgical extraction of impact teeth


Cornelia de Lange syndrome (CLS) or Brachmann- de Lange syndrome was initially described by Dr. Brachmann in 1916. In 1933 Dr. Cornelia de Lange reported about two cases of this syndrome [1]. CLS is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates with no racial predilection [2]. It is slightly more common in females (1.3:1).

The genetic and molecular base of this syndrome is not completely clear. However, it is thought to be due to a dominant mutation. A large part of the cases diagnosed as CLS seem to be sporadic and 10% of the cases present chromosomal alterations, translocation of the 3q 26:2-q23 [3-5].

The main clinical characteristics of this syndrome are the delay in growth and development, mental retardation, hirsute, anomalies in the structure of the limbs and distinctive facial characteristics [4].

The facial features are the most clinically consistent and recognizable findings in CLS. Most individuals have microcephaly, short neck, low posterior hairline, hirsute forehead, arched eyebrows and synophrys sometimes with severe ptosis. Thick and long eyelashes, lower ears, flattened midface, short nose and long philtrum are also commonly seen. The oral features include a thin upper lip, a high palate, widely spaced teeth and micrognatia [2,4] Cleft palate is shown by 20% of the patients with this condition [2,6,7].

The extremities are also usually altered by the presence of simian palm groove, micromelia and syndactyly [4]. Ocularly, almost all the patients have problems associated as myopia, ptosis or cronic blefaritis. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems, 25% suffer from congenital heart defects like atrial and ventricular septal defects and hypoplastic left ventricle. These problems and gastrointestinal complications are the main causes of death in patients with CLS [1,2,8].

The syndrome has been associated with certain behavioral and temperamental features such as self-injurious behavior, obsessive-compulsive behaviors, attention deficit disorder with or without hyperactivity, short attention span, depression and autistic features [6,9].

The aim of this study was to identify the principle clinical features of this syndrome in the literature and to describe the dental management of a patient with CLS and how the treatment resulted in the improvement in the quality of life of this patient.

Case Report

The patient was a 20-years-old Venezuelan young male, the first child of a remote consanguineous couple. His younger sister had no signs of dental anomalies. The patient was born at 43 weeks with umbilical cord circumference. During the delivery, the baby inhaled the contaminated amniotic fluid with meconium and experienced respiratory problems. For that reason, the child was hospitalized for 2 weeks. His weight was 2 Kg 400 g and his size 49 cm. The patient was not breastfed. He vomited frequently and at the age of 6 months was diagnosed with severe malnutrition. The cephalic circumference did not grow normally. His genetic evaluation concluded a Cornelia de Lange syndrome. The patient had associated epileptic seizures and underwent treatment with Clonazepam 1.5 mg each day and Phenytoin 8 cc each day.

The patient had short stature. His weight, height and body mass index was very low. He uses a wheelchair because of the psychomotor problems and mental retardation. He also has facial asymmetry, unilateral palpebral ptosis, the eyebrows are very close together (synophrys) and the ears were low implanted (Figure 1).