IngentaConnect Lower extremity counterpart of the Poland syndrome

Authors: Silengo, M¹; Lerone, M²; Seri, M²; Boffi, P¹

Source: Clinical Genetics, Volume 55, Number 1, January 1999 , pp. 41-43(3)

Publisher: Blackwell Publishing

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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.

Keywords: leg hypoplasia; Poland syndrome; toe brachysyndactyly; vascular disruption

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550107.x

Affiliations: 1: Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, 2: Servizio di Genetica Medica, Istituto G Gaslini, Genova, Italy

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