GENETIC COUNSELING, cilt.15, sa.4, ss.469-472, 2004 (SCI-Expanded)
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.