A new lethal sclerosing bone dysplasia
- Cite this article as:
- Kingston, H.M., Freeman, J.S. & Hall, C.M. Skeletal Radiol. (1991) 20: 117. doi:10.1007/BF00193823
- 37 Downloads
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.