title: Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.
abstract: We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.
authors.affiliation: The Genetics Institute, Haemek Medical Center, Afula, Israel.
authors.forename: S A
authors.initials: SA
authors.lastname: Shalev
authors.forename: E
authors.initials: E
authors.lastname: Shalev
authors.forename: D
authors.initials: D
authors.lastname: Reich
authors.forename: Z U
authors.initials: ZU
authors.lastname: Borochowitz
mesh_terms: D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics; D005094:Exophthalmos / Q000235:genetics*; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities*; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome