Osteocraniostenosis. Issue 10 (October 1994)

• Record Type: Journal Article
• Authors: Verloes, A; Narcy, F; Grattagliano, B; Delezoide, A L; Guibaud, P; Schaaps, J P; Le Merrer, M; Maroteaux, P
• Is Part Of: Journal of medical genetics. Volume 31:Issue 10(1994)
• Page Start: 772
• Page End: 778
• Publication Date: 1994-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.10.772
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathological investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modelling of the metaphyses, and, in one case, dysplasia of the epiphyseal cartilage. We review three previously reported cases. We suggest the name osteocraniostenosis to describe this radiological and clinical disorder, pinpointing its major clinical and radiological features.