Case Reports
doi: 10.1007/BF00193823.
A new lethal sclerosing bone dysplasia
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- PMID: 2020859
- DOI: 10.1007/BF00193823
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Case Reports
A new lethal sclerosing bone dysplasia
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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