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15 de jul. de 2021 · The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.
- Entry - #619435 - RITSCHER-SCHINZEL SYNDROME 4; RTSC4 - OMIM
Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a...
- Entry - #300963 - RITSCHER-SCHINZEL SYNDROME 2; RTSC2 - OMIM
Ritscher-Schinzel syndrome-2 (RTSC2) is an X-linked...
- Entry - #619435 - RITSCHER-SCHINZEL SYNDROME 4; RTSC4 - OMIM
23 de ene. de 2020 · Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome.
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomali...
El síndrome Ritscher-Schinzel (RSS), también llamado síndrome 3C o displasia cráneo-cerebelo-cardíaca, es un síndrome genético raro descubierto en 1987 por Ritscher et al. [1] Estos autores describieron el caso de 2 hermanas con dimorfismos faciales similares, anomalías de la fosa posterior y defectos cardiacos.
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, et al. Eur J Med Genet. 2022 Nov; 65(11):104624.
