Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East

Abstract

Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran.Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients.Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages.Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.

Peripheral odontogenic fibroma in a child with Ellis‐van Creveld syndrome: Case report

“…2,6,7,9,11,12 However, in the literature, there are reports of unusual findings, such as taurodontism, 2,6,9,11 supernumerary tooth, 9 microdontia, dens in dente, talons cusp, 2,5 single-rooted deciduous molars, 6 impacted tooth, 2 and dental transposition. 8 In this clinical case, the presence of taurodontism was detected in the deciduous molars and a certain degree of taurodontism in the permanent molars.…”

“…Classic oral and dental characteristics found in this patient corroborate those described by several authors: Macroglossia and high‐arched palate, teeth agenesis, 2,5–7,9,11,12 conical teeth, 2,5,6,8,9,11,12 enamel hypoplasia, 8,9,11 natal/neonatal teeth, 10,11 bilateral posterior crossbite 7,11,12 presence of multiples accessory labial frenula 2,6,7,9,11,12 . However, in the literature, there are reports of unusual findings, such as taurodontism, 2,6,9,11 supernumerary tooth, 9 microdontia, dens in dente, talons cusp, 2,5 single‐rooted deciduous molars, 6 impacted tooth, 2 and dental transposition 8 . In this clinical case, the presence of taurodontism was detected in the deciduous molars and a certain degree of taurodontism in the permanent molars.…”

“…Parental consanguinity is extensively reported in the literature 2,6,8,10,11,16 and it is present in about 30% of EVC syndrome cases. 4 The patient has a history of consanguineous marriage in the family, a fact that supports the syndrome recessive character.…”

“…Ellis‐van Creveld (EVC) syndrome also known as chondroectodermal dysplasia is a rare autosomal recessive congenital disorder 1,2 caused by mutations in the two genes EVC1 and EVC2 localized in locus 16 on the short arm of chromosome 4 3 . Short limb dwarfism 1,2,4,5–13 postaxial polydactyly of the hands, 1,2,4–14 ectodermal dysplasia may affect hair, teeth and nails 1,2,4–14 and congenital heart malformations 1,4,6,7,10,13 and pulmonary hypoplasia are attributions that characterize the EVC syndrome. Congenital heart defects occur in 50%–60% of cases 4,15,16 …”

“…17,18 Parental consanguinity may be present 2,10,11 in about 30% of the cases. 4 Classic oral manifestations may include tooth agenesis 2,[5][6][7]9,11,12 , conical teeth, 2,5,6,8,9,11,12 taurodontism , 2,6,9,11 enamel hypoplasia, 8,9,11 malocclusion, 7,11,12 presence of multiples and accessory labial frenula, 2,6,7,9,11,12 lower rotated canine, midline notch in the upper lip anterior portion to the maxillary gingival mucosal margin. 2,6,7,9,11 In addition to these clinical manifestations, oral lesions may be present.…”