ArticleAmerican journal of medical genetics. Part A2012
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child.Radiology case reports · 2020Article
- Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.American journal of medical genetics. Part A · 2020Article
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain : a journal of neurology · 2020Article
- Rhombencephalosynapsis: Fused cerebellum, confused geneticists.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
- Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis.Iranian journal of neurology · 2018Article
- Infantile hydrocephalus: a review of epidemiology, classification and causes.European journal of medical genetics · 2014Review
- Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.The Lancet. Neurology · 2013Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic assessment, and statistical analysis. We assessed 53 patients. Thirty-three had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features, and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES-associated malformations rather than a collection of discrete syndromes.
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