A new lethal sclerosing bone dysplasia.
case_report · Level V
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- Record sourced from PubMed, PMID 2020859.
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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.
Medical subject headings
- Bone Diseases, Developmental
- Osteosclerosis