Resultado de búsqueda
4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic ...
14 de mar. de 2019 · Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with...
Systemic Features: Affected individuals may be of normal birth weight but skeletal growth is subnormal and there is general developmental delay. Congenial cardiac anomalies such as persistent ductus arteriosus may be present. Lymphedema has been noted at one year of age and probably persists throughout life. Protein-losing enteropathy secondary ...
Takenouchi-Kosaki syndrome. A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip
2 de mar. de 2021 · Takenouchi–Kosaki syndrome (OMIM #616737), also known as Macrothrombocytopenia and Mental Retardation (MMR) syndrome, is an autosomal dominant, clinically heterogeneous disorder, characterized by multi‐systemic involvement, and developmental delay. 1 , 2 The syndrome first described in 2015, is associated with heterozygous pathogenic variants in...
14 de mar. de 2019 · In the present report, we showed that Takenouchi-Kosaki syndrome is a clinically recognizable condition characterized by a combination of macrothrombocytopenia, intellectual disability, sensorineural hearing loss with structural brain abnormalities, camptodactyly, and frequent infections and decreased CD19-positive cells.
9 de sept. de 2021 · Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anomalies.
