Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome (POGZ): Case Report and Review of the Literature

This publication presents a case report of a patient with White–Sutton syndrome due to a POGZ mutation, highlighting unusual features of adducted thumbs and peripheral polyneuropathy. The authors review previously reported cases from the literature to broaden the phenotype associated with POGZ mutations. Abstract (Summary): White–Sutton syndrome, caused by heterozygous POGZ mutations, is typically characterized by developmental delay, intellectual disability, autism, short stature, and dysmorphic features. In this report, a child with a de novo POGZ variant presented with congenital adducted thumbs and evidence of a demyelinating peripheral neuropathy, features not commonly emphasized in prior cases. These findings support expanding the clinical spectrum of White–Sutton syndrome. Recognition of limb contractures (like adducted thumbs) and neuropathy in a patient with developmental delay could prompt consideration of POGZ-related disorder. This paper underscores the importance of detailed neurological and dysmorphic examination in suspected cases and provides a review of literature on White–Sutton syndrome to date.