Abstract:<p class="abstract"><span lang="EN-IN">Hajdu Cheney syndrome is extremely rare autosomal dominant congenital disorder of connective tissue. It may occur due to spontaneous de novo mutation and mutation in NOTCH-2 gene identified recently. Most characteristic features include aero-osteolysis involving phalanges of both hands and feet, osteoporosis, deformities of skull, mandible, spine and other bones, kyphoscoliosis and bone fractures. Rarely in some affected individuals, it causes joint hypermobil… Show more
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