title: Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome.
abstract: Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously.
authors.affiliation: Department of Paediatric Medicine, Unit-2, Children's Hospital and Institute of Child Health, Lahore. qureshiahmad@yahoo.com
authors.forename: Ahmad Usaid
authors.initials: AU
authors.lastname: Qureshi
authors.forename: Yasser
authors.initials: Y
authors.lastname: Masood
authors.forename: Agha Shabbir
authors.initials: AS
authors.lastname: Ali
mesh_terms: D001827:Body Height; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007906:Lens Subluxation / Q000209:etiology; D008297:Male