Format

Send to:

Choose Destination
See comment in PubMed Commons below
Skeletal Radiol. 1991;20(2):117-9.

A new lethal sclerosing bone dysplasia.

Author information

  • 1Regional Genetics Centre, St. Mary's Hospital, Manchester, UK.

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.

PMID:
2020859
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk