The radiological features of the basal cell naevus syndrome (Gorling-Goltz syndrome) are described, based on four of our own cases and 105 collected from the literature. Multiple cysts in the lower or upper jaw are found in 92% and 35% respectively. Anomalies of ribs are present in 45%, calcification of the falx in 49% and a scoliosis of the spine in 32% of cases. In our four patients, multiple small cysts were found in the bones of the hands and of the arms. These changes have not been previously described.
This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet–Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.
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