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Spoorthi Jagadish, Tanavi Ghadage
Department of Pediatrics, Sir JJ Group of Hospitals, Mumbai, India

Address for Correspondence: Dr Spoorthi Jagadish, Thejas J B Lobo Road, Kodikal, Mangalore, Karnataka, India. Email:

A two year old boy born of a third degree consanguineous marriage, came with complaints of developmental delay and abnormal skin lesions, noticed since birth. There was no similar family history. Antenatal history was uneventful. On examination, he had hypertelorism, high arched palate, delayed dentition, pectus carinatum, genu valgum with knock knees, hypotonia and peculiar skin lesions all over the body, characterized by multiple asymmetrical hypopigmented whorls, streaks and reticular patches on trunk, upper and lower limbs.

What is the diagnosis_?

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