A family with Jeune syndrome

Jeune syndrome is a rare autosomal recessive disease characterized by narro w thoracic cage and short-limbed dwarfism. Seventy percent of affected indi viduals die in early childhood from pulmonary hypoplasia and respiratory di stress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survi ve the respiratory failure. We report a family that exhibited clinically he terogeneous features of Jeune syndrome. The 6-year-old male proband present ed with skeletal deformities and chronic renal failure. A kidney biopsy rev ealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrom e was also established for the proband's older sister, who had died of rena l failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short s tature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demons trate the clinical heterogeneity of Jeune syndrome and underline the associ ation of renal disease with this syndrome.