title: A case of neonatal Jeune syndrome expanding the phenotype.
abstract: 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.
authors.affiliation: Neonatal Intensive Care Unit, Azienda Istituti Ospitalieri di Cremona Via Concordia, 1 26100, Cremona, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Drera
authors.affiliation: Neonatal Intensive Care Unit, Azienda Istituti Ospitalieri di Cremona Via Concordia, 1 26100, Cremona, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Ferrari
authors.affiliation: Clinical Genetics, Azienda Istituti Ospitalieri di Cremona Via Concordia, 1 26100, Cremona, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Cavalli
authors.affiliation: Neonatal Intensive Care Unit, Azienda Istituti Ospitalieri di Cremona Via Concordia, 1 26100, Cremona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Poggiani
keywords: Asphyxiating thoracic dystrophy; Jeune syndrome; ciliopathy; dwarphism; nephronophthisis; oligohydramnios; renal cyst