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A new lethal sclerosing bone dysplasia (1991)

Kingston, H. M. ; Freeman, J. S. ; Hall, C. M.

Springer

Skeletal radiology 20 (1991), S. 117-119

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ISSN: 1432-2161

Keywords: Skeletal dysplasia ; Congenital defects ; Autosomal recessive inheritance ; Osteosclerosis

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00193823

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