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We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).
We report the case of a 10-year-old male who developed gangrene of his fingers and toes following severe dengue fever complicated by disseminated intravascular coagulation (DIC). Child developed bilateral dry gangrene of fingers and toes. All the peripheral pulses of the affected limbs were palpable. The child had no history of taking B-blockers, ergot… (More)