A 12-year-child, who has intellectual disability, is having large face, large jaw, large ear and macroorchidism. Diagnosis?: (A) Mc Cune Albright syndrome, (B) Down's syndrome, (C) Cri-du chat syndrome, (D) Fragile X syndrome
Answer is D. Fragile X syndrome- CGG trinucleotide repeats. Intellectual disability, large face, large jaw, large ear and macro-orchidism. Cri-du chat syndrome- high pitched cry, microcephaly, intellectual disability, hypotonia Mc Cune Albright syndrome- cafe au lait pigmentation, fibrous dysplasia, endocrine dysfunction Down's syndrome- mongloid slant, epicanthal folds, depressed nasal bridge