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Frias sendromu

Kalıtsal - AD

Gelişme geriliği

Kulak malformasyonları

İşitme sorunları (tek taraflı)

Hipertelorizm

Ptosis

Gözler çekik

Mikrognati

Lateral kesici dişlerin agenezi

Üst sağ santral kesici diş iri

Psikomotor gerilik

 

• Frias, J. L., Guttery, E. G., III, Felman, A. H. Growth deficiency, facial dysmorphogenesis and brachydactyly: a new syndrome. Birth Defects Orig. Art. Ser. XI(2): 30-33, 1975 

• Martinez-Frias ML, Toral JF, Lopez-Grondona F, et al.. Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family. American Journal of Medical Genetics, 137A: 288-291, 2005

• Martinez-Fernandez ML, Bermejo-Sanchez E, Fernandez B, et al. Haploinsufficiency of BMP4 gene may be the underlying cause of Frias syndrome. American Journal of Medical Genetics, 164A: 338-345, 2014