title: Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.
abstract: We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.
authors.affiliation: Department of Genetics, Cerrahpasa Medical School, Istanbul, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Elçioğlu
authors.forename: G
authors.initials: G
authors.lastname: Karatekin
authors.forename: B
authors.initials: B
authors.lastname: Sezgin
authors.forename: A
authors.initials: A
authors.lastname: Nuhoğlu
authors.forename: A
authors.initials: A
authors.lastname: Cenani
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases; D017689:Polydactyly / Q000000981:diagnostic imaging; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging / Q000503:physiopathology*; D014427:Twins