ellis - van creveld ( evc ) syndrome , also called chondroectodermal dysplasia , mesoectodermal dysplasia , or chondrodystrophy , is a rare autosomal recessive congenital disorder [ 1 , 2 ] .
its reported incidence in amish population of pennsylvania , usa , is one in 1,500,000 live births and in non - amish population , the incidence is seven in 1,000,000 live births . in iran , however , the incidence of this syndrome has not been previously reported .
evc was first reported by mcintosh in 1933 and was subsequently described in detail by ellis and van creveld in 1940 .
evc ( omim # 225500 ) , is caused by a mutation in the evc1 gene or a mutation in a non - homologous gene , evc2 , which is located close to evc gene in a head - to - head configuration [ 4 , 5 ] .
parental consanguinity has been observed in about 30% of the cases [ 1 , 5 , 6 ] .
this syndrome is characterized by a variable spectrum of clinical findings , among which chondrodystrophy , polydactyly , ectodermal dysplasia , and congenital cardiac anomalies are the most common [ 5 , 7 ] . about half of the children suffering from evc syndrome fail to survive because of respiratory problems , and the rest need different procedures to manage their disease .
oral manifestations of evc syndrome include hyperplastic frenula , absence of mucobuccal fold , gingival hypertrophy , hypodontia , dystrophic philtrum , and cleft palate [ 2 , 8 , 9 ] .
the maxillary and mandibular alveolar processes may present notching or submucosal clefts [ 8 , 9 ] .
uncommon oral and dental diseases have helped physicians to diagnose this syndrome aptly and refer the patients to potentially prevent additional complications .
a two - and - a - half year old female presented to the department of pediatric dentistry in isfahan university of medical sciences in april 2012 , with the chief complaint of delayed tooth eruption .
she had no teeth , and exhibited hypertrophy of the labio - gingival frenulum ( figure 1 ) .
all the primary incisors , canines , and first molars , as confirmed by radiographs , were congenitally missing ( figure 2 )
. she did not exhibit gingival hypertrophy , and had missing teeth in the gingival area .
the rest of her physical examination was significant for polydactyly ( hexadactyly ) of both hands , and dystrophic nails ( figure 3 ) .
her head morphology and facial appearance were normal , except for hidrotic and fine hair .
she had post - axial polydactyly with fusion of the fifth and the sixth metacarpal bones and disproportionately shorter distal phalangeal bones ( acromelia ) ( figure 5 ) .
she was referred to a pediatric hospital and was examined for anomalies in other organ systems .
specifically , she was examined for bony abnormalities , as well as defects in her kidneys , heart and lungs .
ellis - van creveld ( evc ) syndrome is a rare autosomal recessive congenital disorder , characterized by chondrodystrophy , polydactyly , ectodermal dysplasia , and congenital cardiac anomalies .
patients may present with growth failure of the proximal tibial epiphysis and the tibial segment may be disproportionately shorter than the femoral segment , or fibula may be shorter than tibia .
oral manifestations include hyperplastic frenula , absence of mucobuccal fold , gingival hypertrophy , hypodontia , dystrophic philtrum , and cleft palate [ 2 , 8 , 9 ] .
the differential diagnosis of evc includes weyers syndrome , mckusick - kaufman syndrome and jeune syndrome .
mkk syndrome , which is a recessively inherited disorder , can be distinguished from evc by its characteristic presence of hydrometrocolpos . in weyers syndrome ,
ectodermal disturbances are similar to evc , but unlike evc , thoracic dysplasia , congenital heart diseases and dwarfism are absent in weyers syndrome .
jeune syndrome , an inherited form of dwarfism , is characterized by short limbs , similar to those observed in evc .
however , patients suffering from jeune syndrome do not exhibit fingernail hypoplasia , which is commonly observed in patients with evc [ 8 , 10 , 11 ] .
patients with evc should be managed through a multidisciplinary approach . particularly during the neonatal period ,
our patient remained undiagnosed , because she had a functional murmur ; which was disregarded .
management of bone deformities requires orthopedic follow - ups and oral manifestations need intense professional attention .
prognosis is coupled to the respiratory problems during the first few months of life that are attributable to thoracic narrowness and heart defects .
treatment should be started as early as possible in order to attain the best possible clinical outcome .
patients may require gingivectomy , frenectomy , and amputation of extra digits under sedation or general anesthesia .
dental care after eruption of teeth includes oral hygiene instructions , dietary counseling and effective plaque control .
definitive management throughout adulthood includes dental implants and prosthetic rehabilitation to compensate for congenital oligodontia .
although evc syndrome has been reported to be quite rare , our case which was detected under normal conditions can be alarming for dental care providers . due to diverse physical problems that such patients may suffer from , and the restrictions they may have for the medications that they take , it is imperative to pay utmost attention while examining or screening these patients for consequent referrals .
 chondroectodermal dysplasia ( ellis - van creveld syndrome ) is a rare autosomal recessive congenital abnormality . 
 this syndrome is characterized by a spectrum of clinical findings , among which chondrodystrophy , polydactyly , ectodermal dysplasia , and congenital cardiac anomalies are the most common . 
 it is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures . 
 the case presented here , although quite rare , was detected under normal conditions and can be alarming for dental care providers.clinical reports outline the classical and unusual oral and dental manifestations , which help health care providers diagnose chondroectodermal dysplasia , and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities . 
INTRODUCTION
CASE REPORT
DISCUSSION