Arrhinencephaly

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q04.1 Arrhinencephaly
ICD-10 online (WHO version 2019)

The Arrhinenzephalie or arhinencephaly is a very rare congenital malformation with absence of the olfactory bulb (Rhinenzephalon) and especially the frontal lobe of the cerebrum .

The term is composed of the negative particle ( alpha privative ) ancient Greek ἀν- Toggle before "rh" adjusted to ἀρ- ar , ancient Greek. ρίς, ρίν- rhīs, rhīn , German 'nose' and ancient Greek. ἐγκέφαλος enképhalos , German 'brain' . Both spellings (with “arrh” and with “arh”) are common, compare the spellings for arrhythmia .

The first description was made in 1882 by Johann Kundrat .

The term is used somewhat differently today as a synonym for

  • Holoprosencephaly
  • for the alobar form of holoprosencephaly
  • as arhinencephaly syndrome for holoprosencephaly

Arrhinencephaly can be associated with a large number of malformations, occur in families and present in a number of syndromes:

literature

  • W. Demyer, W. Zeman: Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2). In: Stereotactic and Functional Neurosurgery. Volume 23, 2004, p. 1, doi: 10.1159 / 000104278 .
  • Rasmussen SA, Moore CA, Khoury MJ, Cordero JF: Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992. In: American journal of medical genetics. Volume 66, No. 3, December 1996, pp. 320-333, doi : 10.1002 / (SICI) 1096-8628 (19961218) 66: 3 <320 :: AID-AJMG16> 3.0.CO; 2-O , PMID 8985495 .
  • FM Goachet: Holoprosencephaly and arhinencephaly. In: The neurologist . Vol. 57, No. 1, January 1986, pp. 38-41, PMID 3960218 .
  • HV Toriello: The arhinencephaly field defect. In: American journal of medical genetics. Supplement. Volume 2, 1986, pp. 73-76, PMID 3146302 .
  • W. Kotte, P. Kunze: Alobar holoprosencephaly (arhinencephaly) with median cleft lip and jaw and normal karytype. In: Zentralblatt für Allgemeine Pathologie u. pathological anatomy. Volume 114, No. 2, 1971, pp. 173-184, PMID 5284504 .

Web links

Individual evidence

  1. ↑ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0, keyword "Arhinencephaly"
  2. ↑ wiktionary
  3. ↑ H. Kundrat: Arhinencephaly as a typical type of deformity. Graz, Leuschner & Lubensky, 1882
  4. ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 . Vol. 1
  5. ↑ W. DeMyer, W. Zeman: Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. In: Confinia neurologica. Vol. 23, 1963, pp. 1-36, PMID 14026941 .
  6. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  7. ↑ JA Kobori, MK Herrick, H. Urich: Arhinencephaly. The spectrum of associated malformations. In: Brain: a journal of neurology. Volume 110 (Pt 1), February 1987, pp. 237-260, PMID 3801853 .
  8. ↑ M. Khan, B. Rozdilsky, JW Gerrard: holoprosencephaly Familial. In: Developmental medicine and child neurology. Vol. 12, No. 1, February 1970, pp. 71-76, PMID 5309311 .
  9. ↑ deletion 7q3. In: Orphanet (Rare Disease Database).
  10. ↑ Microdeletion syndrome 7q11.23, distal. In: Orphanet (Rare Disease Database).
  11. ↑ Microdeletion Syndrome 7q31. In: Orphanet (Rare Disease Database).
  12. ↑ Micro gastric disease - shortening of the extremities. In: Orphanet (Rare Disease Database).
  13. ^ Steinfeld syndrome. In: Orphanet (Rare Disease Database).