Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Aggarwal, S.; Coutinho, M.F.; Dalal, A.; Jain, S.J.; Prata, M.J.; Alves, S.

http://hdl.handle.net/10400.18/2851

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Abstract(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.