title: Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.
abstract: Severe Sillence type II/III Osteogenesis imperfecta (OI) is a lethal or severely crippling disease with either autosomal dominant or recessively inherited type I collagen mutations. Here we describe the detailed clinical features of a thin-ribbed OI variant with deformed limbs. The three consecutively affected children showed no genetic linkage with either of the two type I collagen genes, which implies that a novel mechanism causes this clinical phenotype. It can be prevented using ultrasound to diagnose affected foetuses.
authors.affiliation: Department of Medical Genetics, Morriston Hospital, Swansea, UK.
authors.forename: E M
authors.initials: EM
authors.lastname: Williams
authors.forename: A C
authors.initials: AC
authors.lastname: Nicholls
authors.forename: S C
authors.initials: SC
authors.lastname: Daw
authors.forename: N
authors.initials: N
authors.lastname: Mitchell
authors.forename: L S
authors.initials: LS
authors.lastname: Levin
authors.forename: B
authors.initials: B
authors.lastname: Green
authors.forename: J
authors.initials: J
authors.lastname: MacKenzie
authors.forename: D R
authors.initials: DR
authors.lastname: Evans
authors.forename: P A
authors.initials: PA
authors.lastname: Chudleigh
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D003094:Collagen / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D014463:Ultrasonography
chemical_list: D003094:Collagen