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Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernandez syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal …
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lop …
Beyond Gomez-Lopez-Hernandez syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Tully HM, et al. Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965664 Free PMC article.
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gomez-Lopez-Hernandez syndrome, RES also occurs in conjunction with V …
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis …
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Samara A, Gusman M, Aker L, Parsons MS, Mian AY, Eldaya RW. Samara A, et al. Curr Probl Diagn Radiol. 2022 Sep-Oct;51(5):747-758. doi: 10.1067/j.cpradiol.2021.07.002. Epub 2021 Aug 28. Curr Probl Diagn Radiol. 2022. PMID: 34607749 Review.
In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schw …
In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Va …
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P. Brocks D, et al. Am J Med Genet. 2000 Oct 23;94(5):405-8. doi: 10.1002/1096-8628(20001023)94:5<405::aid-ajmg12>3.0.co;2-8. Am J Med Genet. 2000. PMID: 11050627
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this conditi …
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalitie …
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Ishak GE, et al. Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26. Brain. 2012. PMID: 22451504 Free PMC article.
Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gomez-Lopez-Hernandez syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes t …
Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations …