A child presents with congenital cyanotic heart disease and polydactyly. Likely diagnosis is:
Correct Answer: Ellis-van Creveld syndrome
Description: a. Ellis-van Creveld syndrome(Ref: Nelson 20/e p 619', 907, 2165, 3376)Discussing about the options, one by onea. Ellis-van Creveld syndromeAlso called 'chondroectodermal dysplasia'Chondrodystrophy, polydactyly, ectodermal dysplasia, CHD (Single atrium, VSD) seenb. Rubinstein-Taybi syndromeMicrocephaly, ptosis, beaked nose with low-lying philtrum, broad thumbs and large toes, intellectual disability, VSDc. McKusick - Kaufman syndromeAlso called Cartilage-hair hypoplasia; Skeletal defects involving legs & rib cage; Immunodeficiency, celiac disease & Hirschsprung disease may be associatedd. Edward syndromeVSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now