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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

 

• 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

• 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

• 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

• 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

• 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

• 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

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