Femoral-facial sendrom
Spontan
Diabetik annelerin bebeklerinde görece sık
Femurlarda hipoplazi/agenezis
Gelişme geriliği
Çekik gözler
İçe şaşılık
Burun kısa-hipoplazik
Filtrum uzun-silik
Üst dudak ince
Mikrognati
Yarık damak
Ventriküler septum defekti
Pulmoner stenoz
Polikistik böbrek
Genital anomaliler
Femur agenezi/hipoplazisi
Uzun kemiklerde anomaliler
Kosta, sternum ve vertebra anomalileri
Skolyoz
Pelvis kemikleri anomalileri
Parmak anomalileri
İnguinal herniler
Ürogenital anomaliler
Beyin anomalileri
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Robinow M, Sonek J, Buttino L, Veghte A. Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance. American Journal of Medical Genetics, 57: 397-399, 1995
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Urban JE, Ramus RM, Stannard MW, Rogers BB. Autopsy, radiographic, and prenatal ultrasonographic examination of a stillborn fetus with femoral facial syndrome. American Journal of Medical Genetics, 71(1):76-79, 1997
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Leal E, Macías-Gomez N, Rodríguez L, et al. Femoral-facial syndrome with malformations in the central nervous system. Clinical Imaging, 27(1):23-26, 2003
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Düzcan F, Ergin H, Perçin EF, Tepeli E, Erkula G. Femoral-facial syndrome with hemifacial microsomia and hypoglossia. Clinical Dysmorphology, 13(1):43-44, 2004
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Nowaczyk MJ, Huggins MJ, Fleming A, Mohide PT. Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases. American Journal of Medical Genetics A,152A(8):2029-2033, 2010
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Luisin M, Chevreau J, Klein C, et al. Prenatal diagnosis of femoral facial syndrome: three case reports and literature review. American Journal of Medical Genetics, 173A: 2923-2946, 2017