title: Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases.
abstract: The early second-trimester sonographic diagnosis of two infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural-tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital Rotterdam-Dijkzigt, The Netherlands.
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: H J
authors.initials: HJ
authors.lastname: van der Harten
authors.forename: J A
authors.initials: JA
authors.lastname: Laudy
authors.forename: P
authors.initials: P
authors.lastname: van de Weg
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
mesh_terms: D000328:Adult; D001699:Biometry; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal