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• W55201217 abstract "This chapter provides an overview of mutations affecting craniofacial cartilage. The number of genetic mutations, malformations, and pathological conditions that affect craniofacial cartilage are legion. The chapter discusses conditions grouped under primary central nervous system malformations, chondrodysplasias, craniosynostoses, and miscellaneous disorders. The central nervous system malformations include anencephaly, holoprosencephaly, and encephalocele. The chondrodysplasia category includes achondroplasia, animal chondrodysplasias, and craniofacial complex. Craniosynostosis is the premature fusion of cranial sutures. Deformity of the head depends upon which suture or sutures are synostosed and on the time during development in which fusion occurs. In all, 57 syndromes with craniosynostosis are known, of which the most common are the Crouzon syndrome, the Apert syndrome, and the Saethre–Chotzen syndrome. The chapter discusses miscellaneous disorders, including basilar impression, which is a skeletal anomaly in which the cranial base is flattened on the cervical spine; aqueductal stenosis; Arnold–Chiari malformation; syringobulbia; and syringomyelia. Some basilar impression is familial, with an autosomal dominant mode of transmission. Basilar impression may also be associated with acroosteolysis—an autosomal dominant condition consisting of dissolution of the terminal phalanges, short stature, bizarrely shaped skull, and premature loss of teeth. Secondary basilar impression is characterized by an invagination at the base of the skull from bone-softening disorders such as Paget's disease, osteomalacia, hypoparathyroidism, osteogenesis imperfecta, Hurler syndrome, osteoporosis, and rickets." @default.
• W55201217 created "2016-06-24" @default.
• W55201217 creator A5042592266 @default.
• W55201217 date "1983-01-01" @default.
• W55201217 modified "2023-09-24" @default.
• W55201217 title "Mutations Affecting Craniofacial Cartilage" @default.
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• W55201217 doi "https://doi.org/10.1016/b978-0-12-319503-6.50013-x" @default.
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