Rhombencephalo Synapsis: A Rare Cerebellar Anomaly with Gomez-Lopez-Hernandez Syndrome

被引：0
|
作者：
Cornelius, Leema Pauline [1 ,2 ]
Elango, Neeraj [1 ]
Jeyaram, Venkateswaran Kuttava [1 ]
机构：
[1] Madras Med Coll & Govt Gen Hosp, Inst Child Hlth, Dept Paediat Neurol, Rina Mandal Rd, Chennai 600008, Tamil Nadu, India
[2] Madras Med Coll & Govt Gen Hosp, Hosp Children, Rina Mandal Rd, Chennai 600008, Tamil Nadu, India
来源：
JOURNAL OF PEDIATRIC NEUROSCIENCES | 2023年 / 18卷 / 04期
关键词：
Alopecia; corneal anesthesia; rhombencephalo synapsis;
D O I：
10.4103/jpn.JPN_209_21
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Rhombencephalo synapsis (RES) is a rare cerebellar anomaly characterized by vermian agenesis and fusion of cerebellar hemispheres. It can occur as an isolated anomaly or with other cerebral, extracranial anomalies. The syndromic associations include Gomez-Lopez-Hernandez syndrome (GLHS) and VACTERL association.
引用
收藏
页码：300 / 302
页数：3
相关论文
共 29 条
  • [21] Two new Brazilian patients with Gomez-Lopez-Hernandez syndrome: Reviewing the expanded phenotype with molecular insights
    Gomy, Israel
    Heck, Benjamin
    Santos, Antonio Carlos
    Figuciredo, Maria Silvia L.
    Martinelli, Carlos E.
    Nogueira, Maria Priscila C.
    Pina-Neto, Joao M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (05) : 649 - 657
  • [22] Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature
    Kotetishvili, Bakur
    Makashvili, Malkhaz
    Okujava, Michael
    Kotetishvili, Alexandre
    Kopadze, Tamar
    INTRACTABLE & RARE DISEASES RESEARCH, 2018, 7 (03) : 191 - 195
  • [23] Gomez-Lopez-Hernandez syndrome: a case report on pediatric neurotrophic corneal ulcers and review of the literature
    Chao, Jonathan
    Rao, Rajesh
    Gupta, Chirag
    JOURNAL OF AAPOS, 2021, 25 (06): : 373 - +
  • [24] Developmental risk for mood dysregulation in a pediatric case of Gomez-Lopez-Hernandez syndrome: Neurocognitive considerations
    Ng, Rowena
    Richard, Annette E.
    Heinrich, Kimberley
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2020, 195
  • [25] Gomez-Lopez-Hernandez Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?
    de Mattos, Vinicius Freitas
    Graziadio, Carla
    Machado Rosa, Rafael Fabiano
    Lenhardt, Rene
    Marcondes Alves, Ronnie Peterson
    Trevisan, Patricia
    Paskulin, Giorgio Adriano
    Gazzola Zen, Paulo Ricardo
    PEDIATRIC NEUROLOGY, 2014, 50 (06) : 612 - 615
  • [26] Cerebello-trigeminal-dermal dysplasia (Gomez-Lopez-Hernandez syndrome): Description of three new cases and review
    Munoz, MV
    Santos, AC
    Graziadio, C
    PinaNeto, JM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 72 (01): : 34 - 39
  • [27] Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature
    Chayim Can Schell-Apacik
    Monika Cohen
    Stepan Vojta
    Birgit Ertl-Wagner
    Eva Klopocki
    Uwe Heinrich
    Hubertus von Voss
    European Journal of Pediatrics, 2008, 167 : 123 - 126
  • [28] Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature
    Schell-Apacik, Chayim Can
    Cohen, Monika
    Vojta, Stepan
    Ertl-Wagner, Birgit
    Klopocki, Eva
    Heinrich, Uwe
    von Voss, Hubertus
    EUROPEAN JOURNAL OF PEDIATRICS, 2008, 167 (01) : 123 - 126
  • [29] Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature
    Lindsay, Faith
    Anderson, Ilse
    Wentzensen, Ingrid M.
    Suhrbier, David
    Stevens, Cathy A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (04) : 623 - 627
123