Author:
Baghianimoghadam Behnam,Arabzadeh Aidin,Fallah Yousef
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.
Reference28 articles.
1. Ellis RW, van Creveld S. A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases. Arch Dis Child 1940; 15:65-84. doi: https://doi.org/10.1136/adc.15.82.65. PMID: 21032169; PMCID: PMC1987729.
2. McKusick VA, Hostetler JA, Egeland JA Genetic studies of the Amish, background and potentialities. Bull Johns Hopkins, 1964; Hosp 115:203-222. doi: https://doi.org/10.1136/adc.15.82.65. PMID: 21032169; PMCID: PMC1987729.
3. McKusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish I. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp, 1964 115:306-336. PMID: 14217223.
4. McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Gene, 2000; 24:203-204. doi: https://doi.org/10.1038/73389. PMID: 10700162.
5. Spranger JW, Brill PW, Poznanski AK (2002) Ellis-van Creveld syndrome. In: Spranger JW, Brill PW, Poznanski AK (eds) Bone dysplasia. An atlas of genetic disorders of skeletal development, 2nd edn. Oxford University Press, Oxford, pp 130-131.
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献