Subject(s)
Palliative Care/methods , Surgical Procedures, Operative/methods , Trisomy 18 Syndrome , Clinical Decision-Making , Female , Humans , Infant, Newborn , Male , Patient Selection , Prognosis , Retrospective Studies , Surgical Procedures, Operative/statistics & numerical data , Trisomy 18 Syndrome/diagnosis , Trisomy 18 Syndrome/therapy , United KingdomABSTRACT
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.
Subject(s)
Ellis-Van Creveld Syndrome/diagnosis , Body Height , Child , Child, Preschool , Developmental Disabilities/etiology , Ellis-Van Creveld Syndrome/complications , Humans , Lens Subluxation/etiology , MaleABSTRACT
This case report describes an experience of using recombinant enzyme in a child who was diagnosed as a case of Gaucher disease at the age of 3 years. Regular enzyme replacement therapy has resulted in marked improvement in his hemoglobin level, absolute neutrophil count, platelets and physical growth.
