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.
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References
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Kingston, H.M., Freeman, J.S. & Hall, C.M. A new lethal sclerosing bone dysplasia. Skeletal Radiol. 20, 117–119 (1991). https://doi.org/10.1007/BF00193823
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DOI: https://doi.org/10.1007/BF00193823