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Genet Couns. 2004;15(4):469-72.

Report of a girl with Klippel-feil syndrome and Poland anomaly.

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  • 1Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.

Abstract

Report of a girl with Klippel-feil syndrome and Poland anomaly: Klippel-Feil syndrome, consisting of the triad of a short neck, low posterior hairline, and limitation of neck movement, is a congenital anomaly characterized by the fusion of cervical vertebrae, Poland anomaly consists of unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. We report a 7-year-old girl with typical findings of Klippel-Feil syndrome and Poland anomaly. To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature.

PMID:
15658624
[PubMed - indexed for MEDLINE]
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