Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome

被引:9
|
作者
Kompanje, EJO [1 ]
机构
[1] Univ Rotterdam, Ctr Med, Dept Neurosurg, Erasmus MC, NL-3000 CA Rotterdam, Netherlands
关键词
D O I
10.1007/s10024-003-2020-2
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
In 1684, Mr. Christopher Krahe described a monstrous child, born in Denmark on Friday, February 29, 1684. The description is suggestive of a diagnosis of Meckel-Gruber syndrome (dysencephalia splanchnocystica). This may represent the oldest description and illustration of the syndrome, of which the first detailed description is attributed to Johann Friedrich der Ringere in 1822.
引用
收藏
页码:595 / 598
页数:4
相关论文
共 50 条
  • [31] Distribution of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome
    Kuroda, N
    Ishiura, Y
    Kawashima, M
    Miyazaki, E
    Hayashi, Y
    Enzan, H
    PATHOLOGY INTERNATIONAL, 2004, 54 (01) : 57 - 62
  • [32] An immunohistochemical study of human fetal liver in the Meckel-Gruber syndrome
    Loo, CKC
    Freeman, B
    Killingsworth, M
    Wu, XJ
    PATHOLOGY, 2005, 37 (02) : 137 - 143
  • [33] A Rare Fetal Anomaly, Meckel-Gruber Syndrome: A Case Report
    Erdemir, Aydin
    Kahramaner, Zelal
    Tekin, Mehmet
    Ercan, Smeyye
    Arik, Bilal
    Cevik, Ozgur
    JOURNAL OF PEDIATRIC RESEARCH, 2014, 1 (03) : 164 - 166
  • [34] Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation
    Sepulveda, W
    Sebire, NJ
    Souka, A
    Snijders, RJM
    Nicolaides, KH
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1997, 176 (02) : 316 - 319
  • [35] A review of Meckel-Gruber syndrome - incidence and outcome in the state of Qatar
    Al-Belushi, Mariam
    Al Ibrahim, Abdullah
    Ahmed, Mayada
    Ahmed, Badredeen
    Khenyab, Najat
    Konje, Justin C.
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2016, 29 (12): : 2013 - 2016
  • [36] Mutations in TMEM231 cause Meckel-Gruber syndrome
    Shaheen, Ranad
    Ansari, Shinu
    Al Mardawi, Elham
    Alshammari, Muneera J.
    Alkuraya, Fowzan S.
    JOURNAL OF MEDICAL GENETICS, 2013, 50 (03) : 160 - 162
  • [37] Meckel-Gruber Syndrome: A Case Who Lived for 5 Months
    Ozturk, Pinar Aydin
    Asena, Muhammet
    Katar, Salim
    Ozturk, Unal
    PEDIATRIC NEUROSURGERY, 2019, 54 (04) : 277 - 280
  • [38] MECKEL-GRUBER SYNDROME-ASSOCIATED WITH ROKITANSKY-KUSTER-HAUSER SYNDROME
    AGAPITOS, E
    CHRISTODOULOU, C
    JOURNAL OF CLINICAL ULTRASOUND, 1995, 23 (07) : 452 - 455
  • [39] The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    Baala, Lekbir
    Romano, Stephane
    Khaddour, Rana
    Saunier, Sophie
    Smith, Ursula M.
    Audollent, Sophie
    Ozilou, Catherine
    Faivre, Laurence
    Laurent, Nicole
    Foliguet, Bernard
    Munnich, Arnold
    Lyonnet, Stanislas
    Salomon, Remi
    Encha-Razavi, Ferechte
    Gubler, Marie-Claire
    Boddaert, Nathalie
    de Lonlay, Pascale
    Johnson, Colin A.
    Vekemans, Michel
    Antignac, Corinne
    Attie-Bitach, Tania
    AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (01) : 186 - 194
  • [40] Meckel-Gruber Syndrome Prenatal : Diagnosis of a Lethal Ciliopathy with Multisystem Anomalies
    Gupta, Avantika
    Khare, Chetan
    Choudhury, Satish
    Kaur, Manpreet
    Deepika, Mangani
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA, 2025, 47 (01)