Schneckenbecken dysplasia in fetus: report of four cases.

Several different types of lethal short-limbed skeletal dysplasia with platyspondylia have been recognized with a different mode of inheritance. Schneckenbecken dysplasia, a very rare lethal osteochondrodysplasia, is included in these entities, with an autosomal recessive mode of inheritance. We describe 4 new Tunisian cases with clinical, radiographic and histopathological features. The fetuses were of consanguineous parents. Prenatal diagnostics of short limbs were carried out on ultrasounds at 20, 22, 23 and 28 weeks of gestation. The radiographic findings were typical, showing especially the small ilia with medial snail-like projection. The chondro-osseous histology of the 4 cases was compatible with the diagnostics demonstrating cartilage anomalies characterized by hypercellularity, hypervascularisation and chondrocytes with central large round nucleus. Schneckenbecken dysplasia should be considered when the phenotype of dwarfism and snail feature of iliac bone associated with histological finding are presented. Frozen fetal samples should be taken in order to look for candidate genes.

A case of spinal immature teratoma.

We report a rare case of intradural immature teratoma in 2-year-old girl, interesting conus medullaris to sacrum, worsening neurological deficits. The neoplasm discovered by magnetic resonance imaging, was completely resected. We describe the clinical, radiological and pathological findings of this tumor with a review of the Literature and we insist in the difficulty of treatment.