A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
We describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal chondrodysplasia inherited as an autosomal recessive trait. The characteristic radiographic findings consist of flattened, hypoplastic vertebral bodies; short ribs; hypoplastic iliac bones with "a snail-like" configuration; short, broad long-bones with dumbbell-like appearance; short and wide fibula; and precocious ossification of the tarsus. Chondro-osseous histology is characteristic with hypervascularity, increased cellular density, and normal size chondrocytes with a centrally located round nucleus and absence of lacunar space. Because of the snail-like radiographic appearance of the pelvis in this disorder, we propose the name "Schneckenbecken dysplasia" (ie, German for snail pelvis).
D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography