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Pediatrics Genetics And Genetic Disorders 94e24266

A child presents with congenital cyanotic heart disease and polydactyly. Likely diagnosis is:

A
Ellis-van Creveld syndrome
B
Rubinstein-Taybi syndrome
C
McKusick - Kaufman syndrome
D
Edward syndrome
High-Yield Explanation
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

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