A new lethal sclerosing bone dysplasia.
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.
Kingston
H M
HM
Regional Genetics Centre, St. Mary's Hospital, Manchester, UK.
Freeman
J S
JS
Hall
C M
CM
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