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Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of t...
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... toe. His nails were dystrophic, friable, markedly hypoplastic, and thin. The remaining physical examination revealed a high forehead, sparse thin hair; particularly on eyebrows, hypertelorism, large low set ears, megalocornea, upward slant of palperal fissures, broad depressed nasal bridge, short bulbus nose, thin upper lip and long philtrum (Fig. 3). Oral examination revealed two upper neonatal teeth, delayed teeth eruption, fusion of the upper lip to the maxillary gingival margin and absence of mucobuccal fold, and multiple small alveolar notches on the crest of the thin alveolar ridge giving a serrated appearance, with absence of teeth (Fig. 4). Pectus carinatum with short ...Similar publications
Postaxial or ulnar polydactyly is the most common form of polydactyly that may present with the duplication of soft-tissue structures only or with additional bony involvement. Surgical excision is the only viable treatment option for postaxial polydactyly with bony involvement, and psychological or cosmetic reasons are the main rationale for treatm...
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 complica...
Carpal anomalies occur in a variety of syndromic associations. In many of these the carpal findings may be characteristic of the disorder. Carpal fusion may occur as an isolated anomaly or related to syndromic association. Carpal fusions appear progressive. In practice the cartilaginous centers in the embryo have probably fused but separate centers...
Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome...
Ellis–van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by
chondro-dystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening
of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow
thorax and congenital heart diseases complete the picture. The patien...
Citations
... Orodental anomalies in this disorder are similar to those in the oro-facio-digital syndrome group except for the tongue nodules. Shawky et al. (2010aShawky et al. ( , 2010b found extrafacial dysmorphism in another Egyptian case that presented with corneal abnormality, upward slanting palpebral fissures, and frontal bossing. A doctorate thesis was provided applying overdenture to restore the tooth agenesis in the anterior area associated with this disorder (AbdelKader, 2015). ...
The regular synchronization during development of an embryo results in the normal formation of his/her structures. The deviation from this harmony produces malformations. The pleiotropic effects of similar genes that contribute in the growth of limb and oral structures produce concurrent abnormalities indeed. The present review gives a brief hint at the shared causative genes of both limb and orodental structures. The nosology either of skeletal and limb malformations or of orodental findings and the types of orodental anomalies were reported in these syndromes. Pathognomonic orodental features and Egyptian experiences
are emphasized.
... Although oral characteristics of EVCS are widely documented, there is a lack of reports about the oral condition of EVCS infants. Knowledge about EVCS infants presenting natal/neonatal tooth(s) is mostly based on case reports about EVCS children, adolescents or adults that presented them, according to parents report (memories) [4,12]. A bibliographic search revealed only three reports of NNT in EVCS infants [12,13]. ...
... Knowledge about EVCS infants presenting natal/neonatal tooth(s) is mostly based on case reports about EVCS children, adolescents or adults that presented them, according to parents report (memories) [4,12]. A bibliographic search revealed only three reports of NNT in EVCS infants [12,13]. Of these, only the study of Farah et al. [5] presents NNT confirmation. ...
... In the case reported by Shawky, Sadik and Seifeldin [13] there is mention of NNT, however, it is not provided information about teeth eruption period and radiographic examination is absent. In turn, the case reported by Serotkin, Stamberg and Waber [12] did not present main characteristics related to EVCS -cardiac and pulmonary impairment. On the other hand, unusual features of the syndrome were reported by the authors, such as inguinal hernias, supernumerary ribs, and delayed motor and cognitive development. ...
Because of multisystemic impairment in patients with Ellis-van Creveld syndrome, multidisciplinary care may be demanded since birth to assure breastfeeding. This report presents a case of an Ellis-van Creveld infant that was facing breastfeeding difficulties because of maxillary neonatal teeth. A 3 months old male infant with Ellis-van Creveld syndrome was referred to Pediatric Dentistry Department because of two upper neonatal teeth causing breastfeeding difficulties. Clinical examination revealed that teeth position was compatible to 51 and 61, and both presented uncommon ectopic soft tissue placement, conical crown and hypoplastic enamel covered by a large amount of dental biofilm. Radiography indicated they were of normal series and had 2/3 of crown completion. Due to teeth mobility that impaired breastfeeding, treatment option was exodontia. Early tooth eruption, such as in natal and neonatal teeth, by itself can’t be considered a reason for exodontia. But exodontia must be considered when an early erupted tooth(s) impairs breastfeeding, especially in systemically compromised infants. In this present case report, after teeth extraction, the infant was able to breastfeed and gain weight properly.
Indexing terms
Breast feeding; Ellis-Van Creveld syndrome; Infant; Natal teeth
... The same study in UAE also found a novel mutation among two families in the depletion of intron 13 of EVC2 gene while the other two showed nucleotide deletion (c.981delG; p.K327fs) in exon 8 of EVC2 gene [16]. In Egypt, the EVC was reported by Shawky et al. in 2010 [17]. A total of six patients in their report had similar oral manifestations including the fusion of the upper lip to the maxillary gingival margin and the absence of mucobuccal fold or the sulcus anteriorly [17]. ...
... In Egypt, the EVC was reported by Shawky et al. in 2010 [17]. A total of six patients in their report had similar oral manifestations including the fusion of the upper lip to the maxillary gingival margin and the absence of mucobuccal fold or the sulcus anteriorly [17]. Pectus carinatum was also a distinguishable feature of the patients with narrowing of the chest that led to respiratory distress among them [17]. ...
... A total of six patients in their report had similar oral manifestations including the fusion of the upper lip to the maxillary gingival margin and the absence of mucobuccal fold or the sulcus anteriorly [17]. Pectus carinatum was also a distinguishable feature of the patients with narrowing of the chest that led to respiratory distress among them [17]. ...
Ellis-van Creveld syndrome (EVC) is a rare genetic disorder characterized by chondral and ectodermal dysplasia. Clinical features may include polydactyly, growth retardation, short ribs, and heart defects. The exact prevalence is still unclear; however, the Amish community in the United States is the most common community to report this rare disease. Until now, only six cases have been reported in Saudi Arabia so far. This is the first case to be reported in the Jazan region. Jazan covers an area of 11,671 km² and has a population of 1,567,547 at the 2017 census. This region has the highest population density with a high consanguinity marriage rate. We present a case of EVC with typical clinical findings, which was confirmed by homozygous mutation in the EVC2 gene in the region of Jazan, Saudi Arabia. Besides the six cases that were reported from Saudi Arabia, this makes it a total of seven cases. The prenatal findings are considered a good predictor of the disease outcome. More effort is needed in making a national registry of rare disorders to report such cases and provide more awareness among highly consanguinity marriage communities.
... Molars may exhibit abnormal or additional cusps and sometimes enamel hypoplasia. Congenital oligodontia in temporary and permanent teeth, the presence of supernumerary teeth, dysmorphic natal and neonatal roots, and late dental eruptions have also been reported [11][12][13][14]. Dental care depends on each case and requires a multidisciplinary medical team of geneticists, speech therapists, orthopedic surgeons, cardiologists, surgical doctors, pediatricians, and dental specialists. ...
... The fusion of the central part of the upper lip to the maxillary gingival ridge, eliminating the maxillary labial vestibule, and the presence of numerous frenulae attaching the upper lip to the gingiva are characteristics of EVC [5,[11][12][13], which were identified in our case. Patients with EVC may have many tooth anomalies [11][12][13][14]. Our patient had several dental anomalies in terms of number (oligodontia), size (microdontia of the incisors), and shape (conical incisors). ...
Introduction: Ellis-van Creveld (EVC) syndrome is an uncommon genetic disease that can be diagnosed at any age. Observation: A case of EVC syndrome was reported in a young 3-year-old female patient presenting chondroectodermal dysplasia, polydactyly, congenital heart defects, damage to the oral mucosa and numerous dental alterations (number, form and structure). Oral management consists of teaching oral hygiene and the prophylactic filling of dental cracks. Discussion: EVC is an autosomal recessive disease. Its diagnosis is only based on clinical features and genetic studies. Conclusion: Dentists should be aware of this syndrome to avoid a late diagnosis and to facilitate a multidisciplinary management.
... Mesoectodermal dysplasia is the term once proposed to include the 60% incidence of congenital heart disease that associate with the disorder. 1 Mutations of the EVC1 and EVC2 genes are in a head to head configuration on chromosome 4p16, which is the causative factor. 2 This report demonstrates a typical Ellis vancreveld syndrome in a 14-year-old Indian girl with the classical oral manifestations, which will aid the dental surgeons in diagnosing the syndrome and refer to other A 14 year old female patient reported to our dental outpatient department with the chief complaint of missing teeth in relation to upper and lower anterior region ( Figure 1). Medical history revealed that the patient had a congenital heart defect and bilateral genu valgum, corrected before 3 years. ...
Ellis-van Creveld syndrome is an extremely rare congenital genetic disorder having autosomal recessive inheritance. The characteristic features of this syndrome are bilateral postaxial polydactyly, acromesomelic dwarfism, ectodermal dysplasia affecting nails, congenital cardiac malformation, edentulous maxillary and mandibular incisors, non-appearance of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The present case describes the oral manifestations of the patient which leads to a perfect diagnosis of this syndrome. Ellis-van Creveld syndrome requires a multidisciplinary management and, hence the dental surgeons play an important role in these cases.
... Other syndromes reported in our locality include: Corpus callosum defect with dilated lateral ventricles and one occipital cyst in an Egyptian child with Diamond-Blackfan syndrome [127], acrocallosal syndrome [128], triple A syndrome presenting with myopathy [129], abnormal presentation of Peter's anomaly in a family with microcornea, and cataract [130], Ellis Van Creveled syndrome with facial dysmorphic features [131], Goldenhar syndrome with skin tags on the chest wall [132], multiple pterygium syndrome with marked pterigia of the fingers and MRI changes in the spine [133], juvenile hyaline fibromatosis (JHF): in an Egyptian 3 years old male child was also reported [134], progressive osseous heteroplasia was also described [135], C syndrome [136], holoprosencephaly, a report of two cases with different presentations [137] and the first report of an Egyptian patient with fibrodysplasia ossificans progressive (FOP) was also presented [138]. ...
As clinical geneticists, we recently reviewed our 43 years experience in an attempt to represent the frequency of genetic disorders in the Division of Genetics at pediatric hospital, faculty of medicine, Ain Shams University, Cairo, Egypt, during the period from 1966-2009.All patients (from birth up to 18 years) suspected of having a genetic disorder were referred to the Genetics clinic in the same hospital. 28,689 patients were proved to have genetic disorders after full investigations among 660,280 children attending the Pediatrics hospital which constituted 4.35% or 43.5/1000. Neurologic disorders were the most common (31.38%) followed by hematologic disorders (18.48%), Chromosomal abnormalities (11.51%), fetal, neonatal and infant deaths (6.56%), special senses (5.82%), inborn errors of metabolism (4.24%,endocrine disorders (3.87%), Skeletal disorders (3.17%), genitor-gonadal (3.10%).neuromuscular disorders (2.86%), syndromes (2.08%), genodermatoses (1.92%), cardiac disorders (1.47%), gastrointestinal tract anomalies (1.37%), renal anomalies (0.26%), connective tissue disorders (0.26%), respiratory defects (0.26%), vascular anomalies (0.21%), and immunologic disorders were the least common.Our study showed a high prevalence of genetic diseases among Egyptians which are nearly the same in the other studies in Egypt and are rapidly becoming a major public health concern. Establishment of national or hospital based registers for genetic disorders are very important to know the magnitude of the problem so that the national program for prevention of genetic disorders can be implemented.
