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- Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationPublication . Aggarwal, S.; Coutinho, M.F.; Dalal, A.; Jain, S.J.; Prata, M.J.; Alves, S.We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.