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