Journal of Dr. NTR University of Health Sciences

CASE REPORT
Year
: 2012  |  Volume : 1  |  Issue : 4  |  Page : 268--271

Complete oral rehabilitation in a child with classical cornelia de lange syndrome: A rare case report


Radhika Muppa, Narendra Varma Penumatsa, Mahesh Kumar Duddu, Dhanalakshmi Karre 
 Department of Pedodontics & Preventive Dentistry, Panineeya Mahavidyalaya Institute of Dental Sciences & Research Centre, Hyderabad, A. P., India

Correspondence Address:
Radhika Muppa
Panineeya Institute of Dental Sciences, Hyderabad
India

Abstract

Cornelia de Lange syndrome (CdLS) is a rare multiple congenital anomaly often termed as Amsterdam dwarfism. Exact incidence is unknown, but is estimated at 1 in 30,000 to 50,000. This syndrome is characterized by distinctive facial features, growth retardation, and limb anomalies with learning difficulties. Diagnosis of these children can be difficult and is mainly based on clinical findings. This paper discusses the full mouth rehabilitation of a 7-year-old child with classic CdLS under general anesthesia.



How to cite this article:
Muppa R, Penumatsa NV, Duddu MK, Karre D. Complete oral rehabilitation in a child with classical cornelia de lange syndrome: A rare case report.J NTR Univ Health Sci 2012;1:268-271


How to cite this URL:
Muppa R, Penumatsa NV, Duddu MK, Karre D. Complete oral rehabilitation in a child with classical cornelia de lange syndrome: A rare case report. J NTR Univ Health Sci [serial online] 2012 [cited 2020 Aug 9 ];1:268-271
Available from: http://www.jdrntruhs.org/text.asp?2012/1/4/268/105113


Full Text

 Introduction



Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by growth and developmental retardation, low birth weight, hirsutism, anomalies in the structure of the upper limbs, gastroesophageal dysfunction, ophthalmic and genitourinary anomalies, congenital diaphragmatic hernia, cardiac septal defect, distinctive facial features, learning difficulties, and mental retardation. [1]

The facial characteristics are the most diagnostic with microcephaly, the neat well-defined and arched eyebrows growing across the base of the nose (synophrys or confluent eyebrows), long curly eyelashes, short neck with low anterior and posterior hairlines, long philtrum, generalized hirsutism, thin lips, micrognathia, a small nose with low bridge, low set ears, and crescent-shaped mouth. [1]

 Case History



A 7-year-old male child with developmental delay and speech disorder reported to the Department of Pedodontics for dental pain. Family and postnatal history was non-contributory. Medical history revealed that child had undergone surgery for ventricular septal defect of heart and cleft palate repair. Developmental milestones of the child were delayed. His face seemed dysmorphic, synophrys, long curved eyelashes, low-set ears, anteverted nostrils, small nose, and thin lips with a crescent-shaped mouth [Figure 1]. He also showed short neck, fairly small feet with simian crease on palms, and hirsutism on his arms and legs [Figure 2]. Intraoral examination revealed surgically repaired cleft palate, macroglossia, micrognathia, multiple carious teeth, missing teeth, and poor oral hygiene with chronic generalized marginal gingivitis [Figure 3].{Figure 1}{Figure 2}{Figure 3}

Investigations and treatment

Orthopantomograph (OPG) and lateral cephalogram were taken to rule out any bony changes, impacted teeth, displacement, and resorption of the teeth and size discrepancies in dental arches. Behavior management of the child was a challenge as the child was hyperactive and had low attention span. As the child needed full mouth rehabilitation, treatment was performed under general anesthesia. Treatment done for this patient included oral prophylaxis; GIC restorations of 53, 62, 63, 65, 75, 81, 83; indirect pulp capping of 55; pulpectomy followed with a stainless steel crown of 85; and extraction of 51, 52, 54, 61, 64, 74, 84. There were no complications throughout anesthesia and post-operative period. On recall visit, removable maxillary and mandibular functional space maintainers were given [Figure 4].{Figure 4}

 Discussion



It was first described by Vrolik in 1849. The first ever documented case was in 1916 by Brachmann followed by Cornelia de Lange, a Dutch Pediatrician, in 1933 after whom the disorder has been named. [2] Various synonyms for this syndrome are Brachmann-de Lange syndrome, de Lange syndrome, Bushy syndrome, and Amsterdam dwarfism.

Mutations in a gene named Nipped-B homolog may be the reason. Chromosomal analysis of the patients revealed duplication of the q26-27 band region of chromosome 3. Complete absence of pregnancy-associated plasma protein A (PAPPA) is associated with CdLS. Hence, it may be considered as marker in prenatal diagnosis. [3] Mutations in the human Scc2 ortholog NIPBL and cohesin subunits SMC1A and SMC3 can cause Cornelia de Lange syndrome. NIPBL gene is responsible for producing delangin, a protein involved in directing development before birth. When the NIPBL gene is abnormal there is an abnormal or non-functioning version of delangin which causes the characteristics signs of CdLS. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. The molecular etiology of the remaining 35% of probands is unknown at this time. [4],[5],[6]

The dysregulation of gene expression that results from mutation in the cohesin gene is more likely to represent the underlying pathogenesis of CdLS. Almost all cases are sporadic and dominant, although recurrence in siblings due to parental mosaicism has been reported. Genotype-phenotype correlations amongst large number of probands indicate that presumably haplo insufficient NIPBL mutations (protein-truncating mutations such as nonsense mutations, splice site mutations, and out-of-frame deletions or insertions) usually result in a more severe cognitive and structural phenotype than missense mutations. [7] Approximately 5% of probands with a clinical diagnosis of CdLS were found to have small in-frame deletion mutations in SMC1A.[8] The SMC1A and SMC3 cases have mild to moderate mental retardation without significant impairments in growth or structural abnormalities of the limb or other organ systems. [8]

Although CdLS is well characterized, its prevalence is difficult to estimate since individuals with milder features are likely to be unrecognized. Published estimates for the incidence range from 1 in 30,000 to 50,000. [9] Certain diagnostic criteria of CdLS have been proposed previously, mainly based on clinical presentations with specific facial features, hand profile, and neurodevelopmental characteristics. Recently, Kline et al. have proposed minimal criteria for the diagnosis of CdLS and a scoring system to evaluate the severity. [10] In order to diagnose an individual clinically, there are specific criteria that should be met. A severity scoring system based on developmental milestones, malformations (particularly of the upper limb), and hearing loss, which was found to correlate well with specific brain malformations, intelligence quotient levels, and mutations in NIPBL has been created.

Van Allen et al. proposed a classification system based on the presentation of different types. Type I "classic" patients have the characteristic facial and skeletal changes of CdLS. Type II "mild" CdLS patients have similar facial and minor skeletal abnormalities as that of Type I; however, these changes may develop later or may be partially expressed. Type III phenocopies CdLS includes the patients who have phenotypic manifestations of CdLS, which are causally related to chromosomal aneuploidies or teratogenic exposures. This patient exhibited characteristic facial features and severe skeletal symptoms, which are compatible with Type I. Brylewski reported that a large majority of such patients have IQ below 50. In our case, the patient scored 45 which fit in to the interval of 44-75(moderate). [11]

Schlesinger et al. described radiologic anomalies associated with CdLS. The characteristic flat spade- like appearance of hands and short tapering fingers, inward curving of fifth finger, were described in his study. [12] In the present case, wrist radiographic findings correlate with short tapering fingers and clinodactyly of the little finger was observed [Figure 5].{Figure 5}

In conclusion, preventive revisions starting in infancy and coordination with the pediatrician are necessary. Routine reviews for every 6 months facilitate the changes in orofacial growth, detection of pathologies, and maintenance of good oral hygiene at home.

References

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