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Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature.
Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N. Fernández-Jaén A, et al. Pediatr Neurol. 2009 Jan;40(1):58-62. doi: 10.1016/j.pediatrneurol.2008.10.001. Pediatr Neurol. 2009. PMID: 19068257 Review.
Gomez-Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and cerebellar anomalies. ...Based on literature and our experience, we propose the presence of t …
Gomez-Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome …
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 …
Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.
Tan TY, McGillivray G, Goergen SK, White SM. Tan TY, et al. Am J Med Genet A. 2005 Nov 1;138(4):369-73. doi: 10.1002/ajmg.a.30967. Am J Med Genet A. 2005. PMID: 16158443 Review.
Prenatal imaging studies of Gomez-Lopez-Hernandez syndrome have not been published before. When rhombencephalosynapsis is diagnosed prenatally, the clinical features of Gomez-Lopez-Hernandez syndrome should be sought at post …
Prenatal imaging studies of Gomez-Lopez-Hernandez syndrome have not been published before. When rhombencephalosy …
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Lindsay F, Anderson I, Wentzensen IM, Suhrbier D, Stevens CA. Lindsay F, et al. Am J Med Genet A. 2020 Apr;182(4):623-627. doi: 10.1002/ajmg.a.61496. Epub 2020 Jan 31. Am J Med Genet A. 2020. PMID: 32003537 Review.
At least 90 cases are described in the literature and it has been associated with VACTERL and Gomez-Lopez-Hernandez syndrome (GLHS). The most common congenital syndrome associated with RES is GLHS, a rare presumed genetic disorder with over 30 c …
At least 90 cases are described in the literature and it has been associated with VACTERL and Gomez-Lopez-Hernandez …
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 …
In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Va …
Gómez-López-Hernández syndrome: a case report on pediatric neurotrophic corneal ulcers and review of the literature.
Chao J, Rao R, Gupta C. Chao J, et al. J AAPOS. 2021 Dec;25(6):373-375. doi: 10.1016/j.jaapos.2021.08.299. Epub 2021 Oct 19. J AAPOS. 2021. PMID: 34678507 Review.
We present a case of Gomez-Lopez-Hernandez syndrome (GLHS), a rare neurocutaneous syndrome, in a 10-month-old girl with neurotrophic keratopathy secondary to trigeminal anesthesia....
We present a case of Gomez-Lopez-Hernandez syndrome (GLHS), a rare neurocutaneous syndrome, in a 10-month …
Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.
Muñoz R MV, Santos AC, Graziadio C, Pina-Neto JM. Muñoz R MV, et al. Am J Med Genet. 1997 Oct 3;72(1):34-9. doi: 10.1002/(sici)1096-8628(19971003)72:1<34::aid-ajmg7>3.0.co;2-v. Am J Med Genet. 1997. PMID: 9295071 Review.
Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. ...
Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp al …