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Case Reports
. 1991;20(2):117-9.
doi: 10.1007/BF00193823.

A new lethal sclerosing bone dysplasia

H M Kingston  1 , J S Freeman, C M Hall
Affiliations
Case Reports

A new lethal sclerosing bone dysplasia

H M Kingston et al. Skeletal Radiol. 1991.

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

    1. J Med Genet. 1989 Dec;26(12):786-8 - PubMed
    1. Am J Med Genet. 1986 Mar;23 (3):811-9 - PubMed

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