The Schinzel‐Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel‐Giedion syndrome, also showing the karyotypic abnormality 47, XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel‐Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the patient.

The data indicate that there the cyotogenetic damage in the aggressive type of periodontal disease is not greater than in chronic periodontitis and control subjects. Although no aberrant cytogenetic damage was observed in different forms of periodontitis compared to control, this does not discount the importance of other genetic factors in the pathogenesis of periodontal disease.

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Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features ofthe syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations.Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles.The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum. (7Med Genet 1997;34:604-606)

Progressive pseudorheumatoid arthropathy of childhood (PPAC) described by Spranger et al is a rare autosomal recessive disorder. An 11 year-old girl was diagnosed as having PPAC at Ege University, Faculty of Medicine, Department of Paediatrics. Her complaints of painful joints, difficulty in walking and joint contractures began at the age of 3 years and she was treated for juvenile rheumatoid arthritis for 8 years. Her symptoms did not respond to nonsteroid anti-inflammatory treatment. During her last hospitalisation period, she was reinvestigated. Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. All the laboratory test results for rheumatoid arthritis were negative. The clinical and radiological findings of the patient are illustrated.