[Mesodermal dysgenesis]

The authors present an account on a 12-year-old girl with ectomesodermal dysgenesis of the Rieger type syndrome. The disease was manifested at the age of nine months by transient diffuse corneal opacity, while the intraocular pressure was normal. In addition to typical corneal changes and changes in the angle of the chamber other associated somatic symptoms included megalocornea, high myoptic astigmatism, cleft soft palate, hypoplasia of the upper jaw, partial anodontia, marked thoracic kyphosis, scoliosis, generalized hypermobility and taxicity of the joints and torticollis. Examination revealed an uncommon pathological karyotype 46, XX, t/1,4 (p36, q23). Cytogenetic examination of the parents and siblings of the proband did not disclose any numerical or structural aberrations. The authors reflect on possible causes of the development of the disease and on the differential diagnosis.