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

页码：300 / 302

页数：3

共 29 条

[1] Gomez-Lopez-Hernandez syndrome
Whetsell, William
Saigal, Gaurav
Godinho, Savio
PEDIATRIC RADIOLOGY, 2006, 36 (06) : 552 - 554
[2] Gomez-Lopez-Hernandez syndrome
William Whetsell
Gaurav Saigal
Savio Godinho
Pediatric Radiology, 2006, 36
[3] Prenatal diagnosis of Gomez-Lopez-Hernandez syndrome
Pomar, Leo
Rieder, Wawrzyniec
Dubruc, Estelle
Giuliano, Fabienne
Atallah, Isis
Lebon, Sebastien
Vial, Yvan
FETAL DIAGNOSIS AND THERAPY, 2023, 50 (02) : 92 - 97
[4] Cerebellotrigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome)
Sullo, Federica
Pratico, Andrea D.
Polizzi, Agata
Catanzaro, Stefano
Mantegna, Selene
Lacarrubba, Francesco
Micali, Giuseppe
Fiumara, Agata
Smilari, Pierluigi
Greco, Filippo
Schepis, Carmelo
Pirrone, Concetta
Zanghi, Antonio
Pascual-Castroviejo, Ignacio
Ruggieri, Martino
JOURNAL OF PEDIATRIC NEUROLOGY, 2018, 16 (05) : 362 - 368
[5] Gomez-Lopez-Hernandez syndrome in a Japanese patient: A case report
Kobayashi, Yu
Kawashima, Hideshi
Magara, Shinichi
Akasaka, Noriyuki
Tohyama, Jun
BRAIN & DEVELOPMENT, 2015, 37 (03) : 356 - 358
[6] Gomez-Lopez-Hernandez syndrome: An easily missed diagnosis
Poretti, Andrea
Bartholdi, Deborah
Gobara, Sonja
Alber, Fabienne Dietrich
Boltshauser, Eugen
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (03) : 197 - 208
[7] Gomez-Lopez-Hernandez syndrome (cerebellar-trigeminal-dermic dysplasia). A case report
Zaldivar-Pascua, Gelder
Davila-Gutierrez, Guillermo
Fernandez-Alvarez, Hortencia
ACTA PEDIATRICA DE MEXICO, 2011, 32 (05): : 292 - 296
[8] Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
Rush, Eric T.
Adam, Margaret P.
Clark, Robin D.
Curry, Cynthia
Hartmann, Julianne E.
Dobyns, William B.
Olney, Ann Haskins
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (02) : 320 - 326
[9] Beyond Gomez-Lopez-Hernandez Syndrome: Recurring Phenotypic Themes in Rhombencephalosynapsis
Tully, Hannah M.
Dempsey, Jennifer C.
Ishak, Gisele E.
Adam, Margaret P.
Curry, Cynthia J. R.
Sanchez-Lara, Pedro
Hunter, Alasdair
Gripp, Karen W.
Allanson, Judith
Cunniff, Christopher
Glass, Ian
Millen, Kathleen J.
Doherty, Daniel
Dobyns, William B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (10) : 2393 - 2406
[10] Gomez-Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
Fernandez-Jaen, Alberto
Martin Fernandez-Mayoralas, Daniel
Calleja-Perez, Beatriz
Munoz-Jareno, Nuria
Moreno, Noelia
PEDIATRIC NEUROLOGY, 2009, 40 (01) : 58 - 62

← 1 2 3 →