CHONDROECTODERMAL SYNDROME

Authors

  • Asad Ullah Jan Fellow in Hand surgery National Orthopaedic hospital Bahawalpur
  • Sajjad Ahmad PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar
  • Tehseen Ahmad Cheema Professor Emeritus National Orthopedic hospital Bahawalpur
  • Farman Ullah PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar
  • Muhammad Waqar PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar
  • Baqir Hussain PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar

Abstract

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. Parental consanguinity is present in about 30% of the cases. A large number of cases were reported in Amish population of Lancaster County, Pennsylvania USA and also in Aboriginal community of Australia in 1964. The incidence in Amish population is 1/5000 live births and in general population 7/1,000,000. There are only 150 cases reported worldwide. The principal feature of this syndrome is a tetrad of disproportionate dwarfism, ectodermal dysplasia, bilateral postaxial polydactyly and congenital heart defects.Keywords: Chondroectodermal dysplasia; Ellis Van Creveld syndrome; Postaxial Polydactyly

Author Biographies

Asad Ullah Jan, Fellow in Hand surgery National Orthopaedic hospital Bahawalpur

Fellow in Hand surgeryNational Orthopaedic hospital Bahawalpur

Sajjad Ahmad, PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar

PGR FCPS II OrthoDepartment of Orthopedics and spine unit A,Hayat Abad Medical Complex Peshawar

Tehseen Ahmad Cheema, Professor Emeritus National Orthopedic hospital Bahawalpur

Professor EmeritusNational Orthopedic hospitalBahawalpur

Farman Ullah, PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar

PGR FCPS II OrthoDepartment of Orthopedics and spine unit A,Hayat Abad Medical Complex Peshawar

Muhammad Waqar, PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar

PGR FCPS II OrthoDepartment of Orthopedics and spine unit A,Hayat Abad Medical Complex Peshawar

Baqir Hussain, PGR FCPS II Ortho Department of Orthopedics and spine unit A, Hayat Abad Medical Complex Peshawar

PGR FCPS II OrthoDepartment of Orthopedics and spine unit A,Hayat Abad Medical Complex Peshawar

References

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Published

2018-06-18

Issue

Vol. 30 No. 3 (2018): JOURNAL OF AYUB MEDICAL COLLEGE, ABBOTTABAD

Section

CASE REPORT

License

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