title: A new lethal sclerosing bone dysplasia.
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.
authors.affiliation: Regional Genetics Centre, St. Mary's Hospital, Manchester, UK.
authors.forename: H M
authors.initials: HM
authors.lastname: Kingston
authors.forename: J S
authors.initials: JS
authors.lastname: Freeman
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
mesh_terms: D001848:Bone Diseases, Developmental; D003393:Cranial Sutures / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D050723:Fractures, Bone / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly; D010026:Osteosclerosis