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rhombencephalosynapsis (18) 18
alopecia (13) 13
gomez-lopez-hernandez syndrome (13) 13
humans (10) 10
index medicus (10) 10
cerebellum - abnormalities (8) 8
gómez-lópez-hernández syndrome (8) 8
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cerebello-trigeminal-dermal dysplasia (2) 2
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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2393 - 2406
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently... 
congenital triangular alopecia | aventriculy | VACTERL | holoprosencephaly | developmental field defect | rhombencephalosynapsis | Gómez‐López‐Hernández syndrome | Developmental field defect | Aventriculy | Rhombencephalosynapsis | Gómez-López-Hernández syndrome | Congenital triangular alopecia | Holoprosencephaly | DEFECTS | FUSION | HYDROCEPHALUS | ANOMALIES | AUTOSOMAL RECESSIVE INHERITANCE | BLASTOGENESIS | Gomez-Lopez-Hernandez syndrome | GENETICS & HEREDITY | MALFORMATION | ASSOCIATION | Abnormalities, Multiple - pathology | Kidney - pathology | Growth Disorders - pathology | Humans | Child, Preschool | Infant | Male | Neurocutaneous Syndromes - pathology | Cerebellum - abnormalities | Spine - abnormalities | Young Adult | Cerebellar Diseases - pathology | Adult | Craniofacial Abnormalities - pathology | Female | Spine - pathology | Anal Canal - pathology | Child | Infant, Newborn | Trachea - abnormalities | Rhombencephalon - abnormalities | Heart Defects, Congenital - pathology | Holoprosencephaly - pathology | Esophagus - abnormalities | Alopecia - pathology | Cerebellum - pathology | Anal Canal - abnormalities | Trachea - pathology | Esophagus - pathology | Phenotype | Kidney - abnormalities | Adolescent | Limb Deformities, Congenital - pathology | Rhombencephalon - pathology | Developmental Field Defect | Congenital Triangular Alopecia
Journal Article
EUROPEAN JOURNAL OF PEDIATRICS, ISSN 0340-6199, 12/2010, Volume 169, Issue 12, pp. 1523 - 1528
Gmez-Lpez-Hernandez syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic... 
Alopecia | Gomez-Lopez-Hernandez syndrome | Rhombencephalosynapsis | ANOMALIES | Trigeminal anesthesia | PHENOTYPE | Ataxia | PEDIATRICS | TRIGEMINAL-DERMAL DYSPLASIA | OF-THE-LITERATURE | CHILDREN
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 50, Issue 6, pp. 612 - 615
Journal Article
EUROPEAN JOURNAL OF OPHTHALMOLOGY, ISSN 1120-6721, 09/2012, Volume 22, Issue 5, pp. 826 - 829
PURPOSE. To report a case of a Gomez-Lopez-Hernandez syndrome (GLHS) variant with corneal neurotrophic ulcer. METHODS. Case report and review of the... 
Trigeminal anesthesia | OPHTHALMOLOGY | Alopecia | Gomez-Lopez-Hernandez syndrome | Neurotrophic corneal ulcer | Gómez-López-Hernández syndrome
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1370 - 1386
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 12/2010, Volume 169, Issue 12, pp. 1523 - 1528
Journal Article
MONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 10/2011, Volume 159, Issue 10, pp. 914 - 917
The clinical examination of the mentally retarded and emotionally labile 16-year-old patient with congenital internal hydrocephalus revealed parietal alopecia,... 
Neurocutaneous syndromes | Alopecia | Rhombencephalosynapsis | Cerebellotrigeminal dermal dysplasia | PEDIATRICS | Gomez Lopez Hernandez syndrome | LOPEZ-HERNANDEZ-SYNDROME | OF-THE-LITERATURE | CEREBELLAR MALFORMATIONS
Journal Article
Intractable & Rare Diseases Research, ISSN 2186-3644, 2018, Volume 7, Issue 3, pp. 191 - 195
We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were... 
brachiturricephaly | Rhombencephalosynapsis | alopecia | Gomez-Lopez-Hernandez syndrome | autism | Autism | Alopecia | Gomez-Lopez-Hernandez syndrome | Brachiturricephaly | Case Report
Journal Article
Intractable & Rare Diseases Research, ISSN 2186-3644, 2018
We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were... 
brachiturricephaly | Rhombencephalosynapsis | alopecia | Gomez-Lopez-Hernandez syndrome | autism
Journal Article
Journal of Neurosurgery: Pediatrics, ISSN 1933-0707, 12/2008, Volume 2, Issue 6, pp. 435 - 437
Rhombencephalosynapsis (RES) is a rare congenital malformation of the cerebellum characterized by hypo genesis or agenesis of the vermis and fusion of the... 
Gomez-Lopez-Hernandez syndrome | Rhombencephalosynapsis | Autosomal dominant polycystic kidney disease | SURGERY | MRI FINDINGS | ANOMALIES | CYSTS | autosomal dominant polycystic kidney disease | LOPEZ-HERNANDEZ-SYNDROME | rhombencephalosynapsis | CHILDHOOD | CLINICAL NEUROLOGY | CLINICAL FINDINGS | INTRACRANIAL ANEURYSMS | PEDIATRICS | DOLICHOECTASIA
Journal Article
Pediatric Neurology Briefs, ISSN 1043-3155, 10/2000, Volume 14, Issue 10, pp. 79 - 80
Since the first patient with cerebello-trigeminal-dermal dysplasia, later called Gomez-Lopez-Hernandez syndrome, was reported in 1979 by Gomez et al, six more... 
Cranial Nerves | Turricephaly | Gomez-Lopez-Hernandez Syndrome
Journal Article
03/2018, ISBN 1119013089
This chapter covers a spectrum of developmental disturbances. One extreme includes commonly encountered collections of mature and immature cerebellar cells in... 
cerebellar heterotopia | neurodevelopmental disorder | extra‐central nervous system malformations | Gomez‐Lopez‐Hernandez syndrome | immature neuroepithelial cells | vermian aplasia | rhombencephalosynapsis | cerebellar dysplasia
Book Chapter
20.