Report of a girl with Klippel-feil syndrome and Poland anomaly
Erol, M.; Caksen, H.; Tan, O.; Atik, B.; Unal, O.; Odabaş, D.
Genetic Counseling 15(4): 469-472
2004
ISSN/ISBN: 1015-8146 PMID: 15658624 Document Number: 583190
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.