Author(s): Drera B, Ferrari D, Cavalli P, Poggiani C
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Abstract KEY CLINICAL MESSAGE: We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies.
This article was published in Clin Case Rep
and referenced in Journal of Clinical Case Reports