Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.
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.
Guschmann
M
M
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
Horn
D
D
Entezami
M
M
Urban
M
M
Hänel
S
S
Kunze
J
J
Vogel
M
M
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