Clinical case of Jeune syndrome

Abstract

The paper reports a clinical case of Jeune syndrome in a baby, in whom the diagnosis was established immediately after his birth. He was also diagnosed as having multiple congenital malformations, such as Dandy–Walker anomaly, hexadactyly of the left hand, cleft palate, choroidal colobomas in both eyes, and atrial septal defect and he also had interstitial nephritis and hepatitis.

Keywords

• jeune syndrome
• asphyxiating thoracic dystrophy
• respiratory failure