Aggarwal, S.Coutinho, M.F.Dalal, A.Jain, S.J.Prata, M.J.Alves, S.2015-02-132015-02-132014-06-01Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 280378-1119http://hdl.handle.net/10400.18/2851We 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.engDoenças GenéticasGenética HumanaGNPTABMolecular CharacterizationMucolipidosis Type II alpha/betaSkeletal Dysplasiajournal article10.1016/j.gene.2014.03.053