Expanding the Phenotypic Spectrum of Anauxetic Dysplasia Type 3: Reporting an Iranian Family With Unique Systemic Features and <scp> <i>NEPRO</i> </scp> Gene Variant

gene. The clinical phenotypes expand the known spectrum of ANXD3, including unique features such as microcephaly, clubfoot, cataracts, urolithiasis, and hearing impairments, whi12-18ch suggest systemic involvement beyond skeletal abnormalities. Diagnostic whole-exome sequencing, supported by Sanger validation, confirmed the autosomal recessive inheritance pattern. A comparative analysis with previously reported ANXD3 cases revealed shared characteristics, including short stature, brachydactyly, and thoracolumbar kyphoscoliosis, while highlighting variability in head size, scalp hair, and systemic features. Microcephaly was observed in our patients, same as previously reported cases, underscoring the phenotypic variability of ANXD3. This study also emphasizes the importance of genetic counseling and early interventions for associated complications, such as orthopedic, renal, and ophthalmological management.