Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome.
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.
Qureshi
Ahmad Usaid
AU
Department of Paediatric Medicine, Unit-2, Children's Hospital and Institute of Child Health, Lahore. qureshiahmad@yahoo.com
Masood
Yasser
Y
Ali
Agha Shabbir
AS
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