Goltz Syndrome Combined with Triple X Syndrome, a Case Report.

This article focuses on a rare case of a female patient diagnosed with both Goltz syndrome, a rare X-linked dominant multisystem disorder characterized by distinctive skin, limb, ocular, and craniofacial abnormalities, and triple X syndrome, a relatively common sex chromosomal aneuploidy involving an extra X chromosome. The patient exhibited multiple congenital anomalies including facial clefts, skin defects, syndactyly, and cardiovascular defects, with diagnosis of Goltz syndrome based on clinical features and triple X syndrome confirmed by chromosomal analysis (47, XXX). This combination of Goltz syndrome and triple X syndrome has not been previously reported. The report details the clinical presentation, multidisciplinary treatment including surgical interventions, and discusses the potential influence of triple X syndrome on the phenotype of Goltz syndrome.