Bainbridge Ropers syndrome (BRPS): differential diagnosis
Evidence-based neurology checklist on bainbridge ropers syndrome (brps): differential diagnosis: Bohring-Opitz syndrome (BOP) ASXL1 gene mutations Intrauterine growth retardation Developmental delay Hypotonia Feeding difficulties Microcephaly Trigonocephaly Up-slanting palpebral fissures Forehead…
Bohring-Opitz syndrome (BOP)
- ASXL1 gene mutations
- Intrauterine growth retardation
- Developmental delay
- Hypotonia
- Feeding difficulties
- Microcephaly
- Trigonocephaly
- Up-slanting palpebral fissures
- Forehead nevus flammeus
- Exophthalmos
- BOPS arm posturing: this is flexion of the elbow and wrist with wrist ulnar deviation
Shashi-Pena syndrome (SHAPNS)
References
- Kuechler A, Czeschik JC, Graf E, et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet 2017; 25:183-191.
- Cuddapah VA, Dubbs HA, Adang L, et al. Understanding the phenotypic spectrum of ASXL-related disease: ten cases and a review of the literature. Am J Med Genet A 2021; 185:1700-1711.
- Shashi V, Pena LD, Kim K, et al. De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype. Am J Hum Genet 2016; 99:991-999.
- And 0 more. Subscribe to see the full list
