Clinical manifestations of Ellis-van Creveld syndrome

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Abstract
Ellis-van Creveld syndrome (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.

Introduction

Ellis-van Creveld syndrome More Details (EVC) or chondroectodermal dysplasia is known to be a rare genetic disease complex. The first full description of the syndrome was given by Richard Ellis and Simon Van Creveld in 1940. A large number of cases were reported in the Amish community of Lancaster, Pennsylvania, USA by Mc Kusick in 1964. Today, this syndrome has been described in other population and it is known to affect all races.

The exact prevalence remains unknown; even so the birth prevalence of EVC has been estimated to be 7 per 1,000,000 populations. The pattern of inheritance was shown to be autosomal recessive with inter- and intra-familial variability, resulting from mutations in EVC1 and EVC2 genes. The parental consanguinity was reported in 30% of cases.

EVC presents with characteristic tetrad:-(1) disproportionate dwarfism with short limbs and exceptionally long trunk, (2) bilateral postaxial polydactyly of the hands, (3) dystrophic nails, hypodontia and malformed teeth, (4) congenital cardiac malformations occur in 50 to 60% of cases, most common being the inter-septal defect. This article describes a case of EVC syndrome in a 7-year-old girl with tetrad of principal features.

Case Report

The subject, 7-year-old girl reported to the Department of Pediatric Dentistry with chief complaint of multiple decayed teeth. History revealed she had never visited dentist before. She was the first child of non-consanguineous and normally developed parents. Pregnancy and birth were uneventful, though, the newborn showed bilateral postaxial polydactyly. She has a younger brother with no congenital abnormalities. Although she appeared to be disproportionately short statured, her head morphology, facial appearance, quantity and quality of the hair were normal.

The skeletal deformities like bilateral postaxial polydactyly, acromelic shortening of upper and lower limbs (arms and legs), genu valgum and short middle and distal phalanges were observed. Other striking features included, long and narrow appearing thorax compared to the height of lower limb, a bulge on the left side of the chest (pigeon chest) and severely dystrophic finger and toe nails. There was widened space between hallux and the rest of the toes. On the other hand, her psychomotor and cognitive developments were within normal limits.

Extra-oral examination revealed slight V-notch on the middle part of the upper lip and mild defect in philtrum. The intra-oral manifestations were remarkable. The labial frenum of the upper lip was hyperplastic and multiple labial freni were present in relation to lower lip. She had small partial clefts on the alveolar ridge of both arches. The four primary lateral incisors were clinically missing and patient did not give any history of previous extractions. The erupted primary central incisors and canines of both arches were hypoplastic (peg-shaped).

She had multiple carious teeth varying from moderate-to-deep caries with pulpal involvement. On radiographic examination, all four permanent lateral incisor and mandibular permanent central incisor teeth buds were congenitally absent. A marked anomaly was seen in the roots of the primary molars. All the first and second primary molars of both maxillary and mandibular arches had short conical single root. A hand-wrist radiograph revealed shortening of the middle and distal phalanges, deformity in the fifth and sixth metatarsals and few carpal bones.

The patient was referred to a cardiologist to know the nature of cardiac involvement. The chest radiograph revealed a shadow of enlarged heart. An echocardiogram was done and a diagnosis for acyanotic congenital heart disease with large ostium primum atrial septal defect, mild tricuspid regurgitation and pulmonary artery hypertrophy was confirmed. The findings of routine blood investigations were within normal limits. Based on the overall clinical examination and the findings of various diagnostic investigations a confirmatory diagnosis of EVC syndrome was established.

The complete oral rehabilitation was done, which involved multiple pulpectomies and stainless steel crown adaptations on primary molars under antibiotic prophylaxis and cantilever acrylic crowns in relation to maxillary primary central incisors for esthetic reasons.

Discussion

EVC (MIM225500) phenotype is variable and affects multiple organs. Prenatal abnormalities may be early discovered, after the 18th gestation week; they include narrow thorax, marked shortening of the long bones, hexadactyly of hands and feet and cardiac defect. However, after birth, the cardinal features usually present are:- (1) disproportionate small stature with increasing severity from the proximal to distal portions of the limbs, and shortening of the middle and distal phalanges; (2) polydactyly affecting hands; (3) ectodermal dysplasia mainly affecting nails and teeth; (4)congenital heart malformations. In the case reported here, we found all the tetrad of principal features of EVC syndrome.

Oral manifestations in EVC are diverse, and involve not only soft tissues but also the number, shape and structure of the teeth. These include; labiogingival adherences, multiple frenula, submucosal clefts, congenitally missing teeth, conical and microdontic teeth, enamel hypoplasia and molars with wide and atypical grooves. All the above-mentioned abnormalities were present in our case and we also found a rare aberration in form, the appearance of single conical roots in relation to primary molars. This morphologic aberration was previously been reported in only one case.

It appears that the dental abnormality occurred in the initiation stage of tooth development, causing the absence of teeth in the anterior region. A further insult at morphodifferentiation stage is probably responsible for the changes in size and form of the teeth. The changes in the anatomy of the crowns with deep fissures and pits could be a predisposing factor in the high rate of caries found in our patient. The dental age of our patient corresponded to the chronologic age and there were no delays in calcification of the buds, formation of roots and eruption of the teeth.

A variety of skeletal features observed in our case, were in line with previous case reports. These included Acromesomelia (relative shortening of the distal and middle segment of the limbs), bilateral postaxial polydactyly, valgus deformity of knee (knock-knees), long and narrow appearing thorax. Congenital cardiac malformations occur in about 50-60% of cases and mostly they are in the nature of inter-septal defects. In the present case report, based on echocardiograph, Acyanotic congenital heart disease with large ostium primum atrial septal defect, mild tricuspid valve regurgitation and pulmonary artery hypertrophy was diagnosed. We performed endodontic procedures and multiple frenectomies under antibiotic prophylaxis in view of the fact that she was at moderate risk (ASA III) of developing bacterial endocarditis.

The management of EVC is multidisciplinary and during the neonatal period it is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bone deformities. The pediatric dentist plays an important role in control of dental and oral manifestations. The dental treatment must be performed under prophylactic antibiotic coverage with consideration for the high incidence of cardiac defects in EVC patients. Special emphasis should be placed on preventive measures in these patients; topical fluoride application, sealants, diet control and frequent dental checkups.

        

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