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CASE REPORT Table of Contents   
Year : 2007  |  Volume : 18  |  Issue : 1  |  Page : 31-34
Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature


Department of Oral Medicine and Radiology, Ragas Dental College and Hospital, Chennai, India

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Date of Submission19-Jul-2006
Date of Decision11-Sep-2006
Date of Acceptance17-Sep-2006
 

   Abstract 

Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio's syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

Keywords: Bilateral postaxial polydactyly, chondroectodermal dysplasia, skeletal anomalies

How to cite this article:
Kurian K, Shanmugam S, Harshvardhan T, Gupta S. Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature. Indian J Dent Res 2007;18:31-4

How to cite this URL:
Kurian K, Shanmugam S, Harshvardhan T, Gupta S. Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature. Indian J Dent Res [serial online] 2007 [cited 2014 Oct 25];18:31-4. Available from: http://www.ijdr.in/text.asp?2007/18/1/31/30920

   Introduction Top


In 1940, Ellis and van Creveld defined a syndrome comprising a certain type of chondrodysplasia, bilateral postaxial polydactyly of the hands, small and dysplastic units and congenital heart defects. They coined the term chondro-ectodermal dysplasia, now referred to as Ellis van Creveld syndrome.[1],[2]

This syndrome is most prevalent in the Amish population of Lancaster County, Pennsylvania, U.S, occurring in 1/5,000 live births and the birth prevelance in non - Amish population is estimated to be 7/1000000.[3],[4] Of the 300 reported cases,[5] ectodermal dysplasia is present in up to 93%. Five different mutations have been associated with this syndrome.[4]

Polydactyly is a constant finding on the hands, usually bilateral, postaxial and on the ulnar side. Polydactyly of the feet is present in only 10% of the patients. A wide space is often present between the hallux and other toes.[6] Syncarpalism (hamate and capitate), synmetacarpalism and polymetacarpalism are frequently present. The extremities are often plump. Acromelic and mesomelic shortness of limbs is often encountered. Shortening is most common in distal aspect of the limbs. Frequently the patient cannot make a tight fist.[7]

Short stature due to shortness of lower legs. Shortness is present at birth and becomes more apparent with subsequent growth. Genu valga[8],[9] curvature of the humerus, talipes equinovarus,[10] talipes calcaneovalgus and pectus carinatum[3],[11] with a long narrow chest with respiratory difficulties are the other features.

Fusion of the middle portion of the upper lip to the maxillary gingival margin eliminating the maxillary labial vestibule or the presence of numerous frenula tethering the upper lip to gingiva.[12],[13],[14],[15],[16]

Hypodontia involving the maxillary and mandibular incisor region is a consistent finding, though supernumerary teeth have been reported in some cases.[15],[16],[17] In the edentulous mandibular incisor region, multiple small alveolar notches may be present on the crest of the thin alveolar ridge giving a serrated appearance.[14],[15],[16],[17]

The nails are hypoplastic, dystrophic, friable, markedly hypoplastic, thin and spoon-shaped and sometimes completely absent.[6] The hair, particularly the eyebrows and the pubic hair, have been stated to be thin and sparse.[1],[8],[11],[18] Congenital heart defects are reported in about 60% of the cases, either single atrium or a large atrial septal defect.

Although most patients have normal intelligence, occasional central nervous system anomalies or mental retardation have been reported.

It is almost impossible to radiographically differentiate Ellis van Creveld syndrome from similar chondrodystrophies such as asphyxiating thorasic dystrophy, achondroplasias, chondroplasia punctata and Morquio's syndrome. Patients may have identical features in hands, pelvis and long bones, differential diagnosis is made with the following clinical changes- such as cardiac anomalies, nail hypoplasias, fusion of upper lip and gingiva, oligodontia and neonatal teeth if present.


   Case Reports Top


Case I

A ten-year-old male patient reported with a complaint of missing anterior teeth since the exfoliation of the deciduous teeth four years back. There was no history of parental consanguity, affected siblings or presence of natal teeth. The patient had intelligence in the normal range. The extremities were plump and showed acromelic and mesomelic shortness of the limbs. Genu valgum was seen as a result of the abnormal proximal tibial epiphysis [Figure - 1]. Narrowed thorax with short poorly-developed ribs giving rise to a pigeon breast was noticed [Figure - 2]. No cardiac anomalies or abnormalities were reported on examination by the physician.

Oral examination showed numerous anomalies. The most striking being the fusion of the middle portion of the upper and the lower lip to the maxillary and mandibular gingival mucosal margin so that no mucobuccal fold or sulcus was present. Premature loss of teeth was reported. Oligodontia of upper incisors and in the corresponding area, multiple small alveolar notches were present on the crest of the thin alveolar ridge giving a serrated appearance. Abnormal crown form was present with hypoplastic developmental enamel with a high caries rate. Anterior teeth were conical [Figure - 3]. Craniofacial measurements are altered due to hypoplastic middle third of the face. Relative prognathism of the lower jaw may be seen.

Fingernails and toenails were markedly hypoplastic, thin, wrinkled and spoon-shaped. The hair particularly the eyebrows were thin and sparse.

Case II

An eight-year-old girl reported with a complaint of irregularly-shaped upper anterior teeth. There was no history of parental consanguity, affected siblings or presence of natal teeth. Her extremities were plump with acromelic and mesomelic shortness of limbs and therefore a short stature. Genu valgum was evidenced as a result of abnormal proximal tibial epiphysis [Figure - 4]. Postaxial polydactyly on the ulnar side of hand was seen [Figure - 5].

Craniofacial measurements were not within normal limits due to hypoplastic middle third of the face, a relative mandibular prognathism was seen [Figure - 6]. Intelligence was in the normal range. No cardiac changes or abnormalities were reported by the physician.

Oral examination revealed the fusion of the middle portion of the upper lip to the maxillary gingival mucosal margin so that no mucobuccal fold or sulcus was present. Premature loss of deciduous teeth was seen and there was presence of a smaller size of erupted teeth [Figure - 7].

Marked hypoplasia of the fingernails was noticed. There was paucity of hair; particularly her eyebrows were thin and sparse.

Case III

A one year and seven-month-old girl baby reported with a complaint of failure in the eruption of many teeth.

There was history of parental first degree consanguity and presence of two natal teeth. Her extremities were plump with acromelic and mesomelic shortness of limbs and therefore a short stature. Genu valgum was evidenced as a result of abnormal proximal tibial epiphysis [Figure - 8]. Postaxial polydactyly of both the hands was seen and syndactyly was evident in the left hand which appears as fusion of three fingers [Figure - 9],[Figure - 10].

Craniofacial measurements were within normal limits. Intelligence was in the normal range. Congenital heart disease with the presence of single atrium was reported by the cardiologist when she was subjected to complete medical examination.

Oral examination revealed fusion of the middle portion of the upper lip to the maxillary gingival mucosal margin so that no mucobuccal fold or sulcus was present [Figure - 11]. Notching of both maxillary and mandibular alveolar ridges is clinically evident [Figure - 12]. Patient presented with only four deciduous teeth in the oral cavity. Atrophy of the upper lip was evident.

Radiological examination of the maxilla and mandible revealed absence of the deciduous central and lateral incisors. Marked hypoplasia of the fingernails was noticed [Figure - 9].


   Discussion Top


The most striking features of the syndrome such as bilateral postaxial polydactyly of the hands, ectodermal dysplasia affecting the nails and teeth, congenital heart abnormalities, chondrodysplasia of the long bones resulting in acromesomelic dwarfism, and presence of genua valga are reported in literature.[19]

Case II and case III show all the features with an exception in case I where postaxial polydactyly was not present and case III presents with syndactyly where there was fusion of three fingers in the left hand (a rare finding in this syndrome).

Oral manifestations of the syndrome include the fusion of the upper lip to the maxillary gingival margin, absence of muco buccal fold or the sulcus anteriorly, notching of the alveolar ridge, congenitally missing teeth in the mandibular anterior region, erupted teeth having small crowns and irregular spaces between teeth.[19]

Case I and II present with the features of congenitally missing teeth in the mandibular anterior region, smaller crowns of the erupted teeth, notching of the alveolar ridge, irregular spaces between teeth and absence of muco buccal fold or the sulcus anteriorly and case III presents with the fusion of the upper lip to the maxillary gingival margin, absence of muco buccal fold or the sulcus anteriorly, notching of the alveolar ridge, congenitally missing teeth in the mandibular anterior region.

Ellis van Creveld syndrome is a rare autosomal disorder. A third of these patients die of cardiac or respiratory distress in infancy. Prenatal diagnosis in regard to intrauterine growth retardation, skeletal malformations and cardiac defects can be depicted on ultrasound images. Diagnosis is also positive using chorionic villi or amniotic fluid using linked-microsatellite markers if a previously affected sibling has been identified. Oral examination was primarily responsible in leading to diagnosis of this syndrome.

A multidisciplinary approach is advocated involving a clinical geneticist, cardiologist, pulmonologist, orthopedician, urologist, physical and occupational therapist, dentist, psychologist, developmental pediatrician and pediatric neurologist for proper management and rehabilitation of such cases.

 
   References Top

1.Ellis RW, van Creveld S. A syndrome characterized by ectodermal dysplasia and congenital morbus. Arch Dis Childhood 1940;15:65.   Back to cited text no. 1    
2.Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of Ellis-van Creveld syndrome. J Clin Ultrasound 2000;28:38-41.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
3.Stoll C, Dott B, Roth MP, Alembik Y. Birth prevalence rates of skeletal dysplasias. Clin Genet 1989;35:88-92.  Back to cited text no. 3  [PUBMED]  
4.Dugoff L, Thieme G, Hobbins JC. First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. Ultrasound Obstet Gynecol 2001;17:86-8.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]
5.Zangwill KM, Boal DK, Ladda RL. Dandy-Walker malformation in Ellis-van Creveld syndrome. Am J Med Genet 1998;31:123-9.  Back to cited text no. 5    
6.Al-Khenaizan S, Al-Sannaa N, Teebi AS. What syndrome is this? Chondroectodermal dysplasia-The Ellis-van Creveld syndrome. Pediatr Dermatol 2001;18:68-70.  Back to cited text no. 6    
7.Ellis RW, Andrew JD. Chondroectodermal dysplasia. J Bone Joint Surg 1962;44:626-36.  Back to cited text no. 7    
8.Mitchell FN, Waddell WW Jr. Ellis van Creveld Syndrome: Report of two cases in siblings. Acta Paediatr 1958;47:142-51.  Back to cited text no. 8  [PUBMED]  
9.Christian JC, Dexter RN, Palmer CG, Muller J. A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. Am J Med Genet 1989;35:88-92.  Back to cited text no. 9    
10.Weiss H, Crosett AD Jr. Chondroectodermal dysplasia: Report and review of literature. J Paediatr 1955;46:268-75.  Back to cited text no. 10    
11.Mckusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish -Ellis van Creveld Syndrome. Bull Johns Hopkins Hosp 1964;115:306-36.  Back to cited text no. 11    
12.Biggerstaff RH, Mazaheri M. Oral manifestation of Ellis van Creveld Syndrome. J Am Dent Assoc 1968;77:1090-5.  Back to cited text no. 12    
13.Douglas WF, Schonholtz GJ, Geppert LJ. Condroectodermal dysplasia (Ellis van Creveld Syndrome): Report of two cases in a subship and review of literature. Am J Dis Child 1959;97:473-8.  Back to cited text no. 13    
14.Filly RA, Golbus MS, Carey JC, Hall JG. Short limited dwarfism: Ultrasonographic diagnosis by mensuration of fetal femoral length. Radiology 1981;138:653-6.  Back to cited text no. 14    
15.Prabhu SR, Daftary DK, Dholakia HM. Chondroectodermal dysplasia (Ellis van Creveld syndrome): Report of two cases. J Oral Surg 1978;36:631-7.  Back to cited text no. 15    
16.Hunter ML, Roberts GJ. Oral and dental anomalies in Ellis van Creveld syndrome (Chondroectodermal dysplasia): Report of a case. Int J Pediatr Dent 1998;8:153-7.  Back to cited text no. 16    
17.Sarnat H, Amir E, Legum CP. Developmental dental anomalies in chondroectodermal dysplasia (Ellis van Creveld syndrome). J Dent Child 1980;47:28-31.  Back to cited text no. 17    
18.Weller SD. Chondroectodermal dysplasia (Ellis van Crevald syndrome). Proc R Soc Med 1951;44:731-2.  Back to cited text no. 18    
19.Rober JG, Cohen MM Jr, Raoul CM. Syndromes of the head and neck. 4th ed. Oxford University Press: 2001. p. 239-42.  Back to cited text no. 19    

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Correspondence Address:
K Kurian
Department of Oral Medicine and Radiology, Ragas Dental College and Hospital, Chennai
India
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DOI: 10.4103/0970-9290.30920

PMID: 17347543

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9], [Figure - 10], [Figure - 11], [Figure - 12]

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