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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The major causes of lethal newborn dysplasia are listed in Table 16.1. Some are invariably fatal, others not so. Sensitive ultrasound scanning is now of real help in prenatal diagnosis for this group; serial measurements are of particular value. Radiographs should always be taken of a stillbirth suspected of falling in this group because this may greatly assist the making of a specific diagnosis. Osteogenesis imperfecta congenita can be easily mistaken for a lethal newborn dysplasia. Although a number of disorders in this group follow autosomal recessive inheritance, the most common, thanatophoric dwarfism, is usually sporadic and shows de novo mutations in the fibroblast growth factor gene FGFR3 (in which other mutations cause achondroplasia and hypochondroplasia). Heterogeneity or mosaicism may well be responsible for the few recurrent cases that have occurred.
Thoracic Abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Thoracic deformities of different degrees can be present in cases of chondroectodermal dysplasia, thanatophoric dwarfism, achondrogenesis, asphyxiating thoracic dystrophy, achondroplasia, and some other types of short-linked dwarfism.10,11
Congenital and Developmental Abnormalities
Published in Harry Griffiths, Musculoskeletal Radiology, 2008
On the other hand, in thanatophoric dwarfism, there are short extremities and ribs with a large head; the long bones show metaphyseal flaring (telephone receiver), and the bones are dense and without fractures. The vertebral bodies are flattened and notched.
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Maroteaux et al. first described thanatophoric dwarfism in 1967 (9). Patients with this disorder die soon after birth, as indicated by the Greek term “thanatophoric,” meaning “death bearing.” TD was classified as group 1, that is, the FGFR3 group, based on new molecular and pathogenic insights in the 2006 revision (6).