A patient with primary hyperoxaluria type I in infancy is reported. He had renal insufficiency, but urolithiasis was absent. Demonstration of diffuse nephrocalcinosis by renal ultrasound contributed to early diagnosis. Prolonged survival leads to extensive extrarenal oxalate deposition. Repeated skeletal surveys showed the development and the progression of severe hyperoxaluria-related bone disease. Translucent metaphyseal bands with sclerotic margins, wide areas of rarefaction at the ends of the long bones, and translucent rims around the epiphyses and the tarsal bones were signs of disordered bone growth. Bone density generally increased with time indicating progressive sclerosis due to oxalate deposition in the previously normal bone structure.

The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

An infant was seen for multiple fractures at the age of 10 weeks. He developed marked cortical thickening of many bones, which raised the suspicion of a battered child syndrome. Unusual progression of bone thickening and hitherto undescribed excessive bone remodeling led to the diagnosis of Menkes'kinky hair disease, a disorder of the connective tissue caused by a decreased copper bioavailability, to which disease the infant finally succumbed.

The asphyxiating thoracic dysplasia (Jeune syndrome) is inherited as an autosomal recessive disorder. It's main characteristics are a narrow thorax with typical radiologic features resulting in respiratory problems of varying degrees. In addition typical changes of the pelvic bones and the phalanges may be demonstrated radiographically. The "major form" usually leads to respiratory failure in early infancy. If the patients survive the neonatal period they may suffer from recurrent infections of the respiratory tract. But there are also patients without respiratory problems. Renal abnormalities and renal failure are a significant feature and a hazard in later life. Patient 1, a female newborn infant with severe manifestation of the clinical and radiologic signs died from respiratory insufficiency on the 17, day of life despite of artificial ventilation. Patient 2, a now eight month old female child with typical radiologic features represents the "minor form". She had respiratory problems only during the first days of life when she required artificial ventilation and is now at a good general condition.

No abstract