Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.
Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.
Slavotinek
A
A
Clayton-Smith
J
J
Kerr
B
B
D000015:Abnormalities, Multiple / Q000473:pathology*; D001006:Anus, Imperforate / Q000473:pathology*; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D006801:Humans; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000002:abnormalities*; D013576:Syndactyly / Q000000981:diagnostic imaging*; D013977:Tibia / Q000473:pathology*