title: Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.
abstract: We report on a family in which 1 males infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann-Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal-recessive inheritance, or of a dominant mutation with parental mosaicism.
authors.affiliation: Department of Clinical Genetics, Princess Anne Hospital, Southampton, United Kingdom.
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
authors.forename: J
authors.initials: J
authors.lastname: Fairhurst
authors.forename: I E
authors.initials: IE
authors.lastname: Moore
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000293:injuries; D002386:Cataract / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005313:Fetal Death; D050723:Fractures, Bone / Q000151:congenital; D006210:Hallermann's Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D011859:Radiography