title: Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.
abstract: The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations.
authors.affiliation: Abteilung für Paidopathologie und Placentologie, Institute für Pathologie, Charité, Campus Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität zu Berlin, Berlin, Germany. Michael.Guschmann@charite.de
authors.forename: M
authors.initials: M
authors.lastname: Guschmann
authors.forename: D
authors.initials: D
authors.lastname: Horn
authors.forename: M
authors.initials: M
authors.lastname: Entezami
authors.forename: M
authors.initials: M
authors.lastname: Urban
authors.forename: S
authors.initials: S
authors.lastname: Hänel
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: M
authors.initials: M
authors.lastname: Vogel
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000473:pathology*; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011859:Radiography; D012801:Sibling Relations; D014463:Ultrasonography