Skeletal Radiology

, Volume 20, Issue 2, pp 117–119

A new lethal sclerosing bone dysplasia

  • H. M. Kingston
  • J. S. Freeman
  • C. M. Hall
Articles

DOI: 10.1007/BF00193823

Cite this article as:
Kingston, H.M., Freeman, J.S. & Hall, C.M. Skeletal Radiol. (1991) 20: 117. doi:10.1007/BF00193823

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.

Key words

Skeletal dysplasia Congenital defects Autosomal recessive inheritance Osteosclerosis 

Copyright information

© International Skeletal Society 1991

Authors and Affiliations

  • H. M. Kingston
    • 1
  • J. S. Freeman
    • 2
  • C. M. Hall
    • 3
  1. 1.Regional Genetics Centre, St. Mary's HospitalManchester
  2. 2.Department of PaediatricsTameside General HospitalAshton-under-Lyne
  3. 3.Department of Paediatric RadiologyHospital for Sick ChildrenLondonUK
  4. 4.Regional Genetics Centre, St. Mary's HospitalManchesterUK

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