Cornelia De Lange Syndrome and Dental Treatment: A Case Report

Cornelia De Lange Syndrome is a multisystemic disease with expressing variable physical, cognitive, and behavioral characteristics. It is a genetic disorder that affects many organs, leading to various clinical presentations. In this case presentation we will report a case of CdLS phenotype, along with extra and intra oral finding and radiographic, then dental management and its follow up.


History
Previously, in 1849, the anatomist Willem Vrolik (1801-1863) reported a case as an extreme example of oligodactyly, and the German doctor Brachmann published, in 1916, a case of symmetric monodactyly, antecubital webbing, dwarfism, cervical ribs, and hirsutism. Throughout history, other names for the syndrome have included Amsterdam dwarfism, Bushy syndrome, or Brachmann syndrome [1] CdLS is a multisystemic disease with expressing variable physical, cognitive, and behavioral characteristics. It is a genetic disorder that affects many organs, leading to various clinical presentations (1).
It is thought that this syndrome was first described in 1916 by Dr. W. Brachmann, a Dutch pediatrician after which this syndrome is occasionally named (Brachmann-De Lange Syndrome). However, the syndrome is most commonly named after Prof. Cornelia De Lange (1871-1950) who reported her first two cases in 1933 ( Figure 1) and presented an account of this syndrome in 1941 in the meeting of the Neurology Society of Amsterdam (2).

Genotypes
Cornelia de Lange Syndrome (CdLS) has five distinctive genotypes numbered from 1 to 5 with CdLS 1 is the most common which contributes 50-60% of cases. The Table 1 shows the five different genotypes with their mutation locations, phenotype and their MIM numbers in addition to their related genes and genes MIM numbers and their inheritance types [2]. The affected genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) all code proteins which are part of the cohesion pathways. This syndrome consists of multiple skeletal deformities with moderate to severe mental retardation associated with facial dysmorphism. There is usually intrauterine growth retardation demonstrated by low birth weight [3] as well as postnatal growth retardation demonstrated by short stature [4]. This can be at least partially attributed to feeding difficulties in the early childhood. The latter is one of the most common early demonstrations of the syndrome and mainly due to Gastro-Esophageal Reflux Disease (GERD) [4].
The main skeletal abnormalities include: micromilia, clinodactyly, single transverse palmar crease, proximal implantation of thumbs, syndactyly of 2 nd and 3 rd toes.
Regarding the mental retardation, most cases can categorized as profoundly disabled [5]. the Intellectual Quotient ranges from below 30 to 86 (average: 53) with initial hypertonicity as the most stable finding that deter their performance.
Intra-oral examination shows usually highly arched palate with delayed eruption [4]. From the pedodontics perspective, it is worth to mention main behavioral symptoms. CdLS children are usually mentally retarded with hypertonicity and hyperactivity with attention problems. Although they are generally shy but the may present combative or self-injurious behavior [4,5].

Case Report
In this paper, we report a case of CdLS phenotype, along with extra and intra oral finding and radiographic, then dental management and its follow up.
Presentation 9 years old girl with phonation difficulties and hearing, was brought to the Pediatric Dentistry Clinic, Damascus University, Damascus, Syria. The later was treated with unclear surgical procedure at age of 2 years.as well as a dysmorphic face since birth which was not fully investigated.
This girl was complaining of continuous pain of 2 nd primary lower molars.

Extra-oral findings
Well noticed face dysmorphism with low frontal hairline, highly arched thick eyebrows, widely spaced eyes (hypertelorism) with mild epicanthal fold, triangular face, anteroverted nostrils, shallow protruded philtrum and wide mouth with downwards slanting corners ( Figure 1). No skeletal deformities. We found the facial findings to be suggestive of Cornelia de Lange Syndrome (CdLS).

Radiological findings
Panoramic X ray showed loss of 2 nd premolar buds ( Figure 5).

Follow-up
The patient was followed up one month later clinically as the restorations and root canal treatment found satisfactory esthetically and functionally. The extractions site showed good healing and uncomplicated. Also, a follow up panoramic X ray was performed ( Figure 6). Which showed no X ray transparencies? Figure 6: A follow up of panoramic X ray.