A child presents with congenital cyanotic heart disease and polydactyly. Likely diagnosis is:
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
Ellis-van Creveld syndrome
Rubinstein-Taybi syndrome
McKusick - Kaufman syndrome
Edward syndrome
Genetics And Genetic Disorders