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Volumn 14, Issue 7, 2009, Pages

Ellis-Van Creveld Syndrome. Case report and literature review

Author keywords

Chondrodysplasia; Ellis van Creveld syndrome; Orofacial anomalies

Indexed keywords

ADULT; AGENESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE GRAFT; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIAGNOSTIC PROCEDURE; DYSOSTOSIS; ECTODERMAL DYSPLASIA; ELLIS VAN CREVELD SYNDROME; FACE; FEMALE; FINGER; FINGERNAIL HYPOPLASIA; GINGIVA DISEASE; GINGIVOLABIAL MUSCULOFIBROUS FRENULA; HAND; HUMAN; HUMAN TISSUE; HYPODONTIA; INCISOR; JEUNE SYNDROME; LIP; MALOCCLUSION; MEDICAL LITERATURE; MOLAR TOOTH; NAIL DISEASE; ODONTOLOGY; ORTHODONTICS; OUTPATIENT DEPARTMENT; PANORAMIC RADIOGRAPHY; PHOTOGRAPHY; POLYDACTYLY; PREGNANCY; SHORT STATURE; TEMPOROMANDIBULAR JOINT; TOOTH MALFORMATION;

EID: 68049115482     PISSN: 16984447     EISSN: 16986946     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (26)

References (15)
  • 2
    • 33845631572 scopus 로고    scopus 로고
    • Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients
    • Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007;120:663-670
    • (2007) Hum Genet , vol.120 , pp. 663-670
    • Tompson, S.W.1    Ruiz-Perez, V.L.2    Blair, H.J.3    Barton, S.4    Navarro, V.5    Robson, J.L.6
  • 4
    • 0014194811 scopus 로고
    • Oral manifestations of chondroectodermal dysplasia (Ellis-Van Creveld Syndrome). Report of a case
    • Winter GB, Geddes M. Oral manifestations of chondroectodermal dysplasia (Ellis-Van Creveld Syndrome). Report of a case. Br Dent J. 1967;122:103-107
    • (1967) Br Dent J , vol.122 , pp. 103-107
    • Winter, G.B.1    Geddes, M.2
  • 5
    • 34247344499 scopus 로고    scopus 로고
    • Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes
    • Ghosh S, Setty S, Sivakumar A, Pai KM. Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:670-676
    • (2007) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.103 , pp. 670-676
    • Ghosh, S.1    Setty, S.2    Sivakumar, A.3    Pai, K.M.4
  • 8
    • 0033046897 scopus 로고    scopus 로고
    • Distraction osteogenesis for lengthening of the tibia in patients who have limb-length discrepancy or short stature
    • Aldegheri R. Distraction osteogenesis for lengthening of the tibia in patients who have limb-length discrepancy or short stature. J Bone Joint Surg Am. 1999;81:624-634
    • (1999) J Bone Joint Surg Am , vol.81 , pp. 624-634
    • Aldegheri, R.1
  • 9
    • 38449109166 scopus 로고    scopus 로고
    • EvC Working Party. Growth hormone analysis and treatment in Ellis- Van Creveld syndrome
    • Versteegh FG, Buma SA, Costin G, De Jong WC, Hennekam RC, EvC Working Party. Growth hormone analysis and treatment in Ellis- van Creveld syndrome. Am J Med Genet A. 2007;143A:2113-2121
    • (2007) Am J Med Genet A , vol.143 A , pp. 2113-2121
    • Versteegh, F.G.1    Buma, S.A.2    Costin, G.3    De Jong, W.C.4    Hennekam, R.C.5
  • 10
    • 13844313480 scopus 로고    scopus 로고
    • An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions
    • Mintz SM, Siegel MA, Seider PJ. An overview of oral frena and their association with multiple syndromic and nonsyndromic conditions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;99:321-324
    • (2005) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.99 , pp. 321-324
    • Mintz, S.M.1    Siegel, M.A.2    Seider, P.J.3
  • 11
    • 17144367278 scopus 로고    scopus 로고
    • Tooth agenesis: In search of mutations behind failed dental development
    • 385-390
    • Kolenc-Fusé FJ. Tooth agenesis: in search of mutations behind failed dental development. Med Oral Patol Oral Cir Bucal. 2004;9:390-5; 385-390
    • (2004) Med Oral Patol Oral Cir Bucal , vol.9 , pp. 390-395
    • Kolenc-Fusé, F.J.1
  • 13
    • 24644462940 scopus 로고    scopus 로고
    • Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome
    • Digoy GP, Greenberg M, Magit A. Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome. Int J Pediatr Otorhinolaryngol. 2005;69:1433-1435
    • (2005) Int J Pediatr Otorhinolaryngol , vol.69 , pp. 1433-1435
    • Digoy, G.P.1    Greenberg, M.2    Magit, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.