Lower extremity counterpart of the Poland syndrome

Citation
M. Silengo et al., Lower extremity counterpart of the Poland syndrome, CLIN GENET, 55(1), 1999, pp. 41-43
Citations number
4
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
55
Issue
1
Year of publication
1999
Pages
41 - 43
Database
ISI
SICI code
0009-9163(199901)55:1<41:LECOTP>2.0.ZU;2-O
Abstract
Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly we re observed in a 4-year-old female with an otherwise normal phenotype. Elec tromyographic and nerve conduction studies were normal. The Doppler evaluat ion was consistent with a 50% reduction in the blood supply from the femora l artery, suggesting vascular disruption as the pathogenic mechanism. Our observations support the hypothesis that a lower extremity counterpart of the Poland syndrome does exist and that the extent of limb involvement i s dependent on the level of vascular disruption.