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.

Keywords: Asphyxiating thoracic dystrophy; Jeune syndrome; ciliopathy; dwarphism; nephronophthisis; oligohydramnios; renal cyst.

Figure 1

Clinical and radiological findings of the patient. (A and B). The narrow thorax with short ribs and hypoplastic lung. The arms long bones appear mildly shortened. (C) Postaxial hands polydactyly. At X-ray of the pelvis note the typical trident appearance of the acetabula. (D) Kidney ultrasound examination: note the cortical cysts, loss of cortico-medullary differentiation, and increased echogenicity.