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Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case.
Gálvez V C, Huete I, Hernández M. Gálvez V C, et al. Rev Chil Pediatr. 2018 Feb;89(1):92-97. doi: 10.4067/S0370-41062018000100092. Rev Chil Pediatr. 2018. PMID: 29664509 Free article. English, Spanish.
Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics....
Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic coun …
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
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.
Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features. In summary, our data provide improved diagnostic and prognostic information, and s …
Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with hol …