Lower extremity counterpart of the Poland syndrome.

Abstract:

:Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral 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 is dependent on the level of vascular disruption.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Silengo M,Lerone M,Seri M,Boffi P

doi

10.1034/j.1399-0004.1999.550107.x

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

41-3

issue

1

eissn

0009-9163

issn

1399-0004

journal_volume

55

pub_type

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