Jump to content

Cebocephaly: Difference between revisions

Edit links
From Wikipedia, the free encyclopedia
Browse history interactively
← Previous edit
Content deleted Content added
VisualWikitext
copy edits
Citation bot (talk | contribs)
Bots
5,355,765 edits
Add: pmid. | Use this bot. Report bugs. | Suggested by SemperIocundus | #UCB_webform 1568/2500
 
(24 intermediate revisions by 9 users not shown)
Line 1: Line 1:
{{short description|Form of holoprosencephaly resulting in a single nostril}}
'''Cebocephaly''' [Greek ''kebos'', monkey + ''kephale'', head] is a developmental anomaly of the head characterized by a monkey-like head, with a defective small, flattened nose with a single nostril or absent nose and closely set eyes. Cebocephaly is part of a group of defects called [[holoprosencephaly]]. The incidence of cebocephaly is 1 in 16,000 births.
{{Infobox medical condition (new)
| name = Cebocephaly
| synonyms =
| image = Cebocephaly (2).png
| caption = Cebocephaly in a 4-month-old girl as a result of [[18p-]]
| pronounce =
| field =
| symptoms = Close-set eyes, flat nose, single nostril
| complications =
| onset =
| duration =
| types =
| causes = Genetic conditions, some [[vertically transmitted infections]]
| risks =
| diagnosis = Before birth: [[ultrasound]]<br />
After birth: symptoms, [[CT scan]]
| differential =
| prevention =
| treatment =
| medication =
| prognosis = Poor (high mortality)
| frequency = 1 in 40,000 deliveries
| deaths =
}}


'''Cebocephaly''' (from [[Greek language|Greek]] ''kebos'', "monkey" + ''kephale'', "head") is a developmental anomaly that is part of a group of defects called [[holoprosencephaly]]. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no [[nasal septum]]). It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries.
⚫
== See also ==
⚫
[[Cephalic disorder]]


== Signs and symptoms ==
Cebocephaly causes:


* two separate eyes set close together<ref name=":1">{{Cite journal|last1=Souza|first1=James P.|last2=Siebert|first2=Joseph R.|last3=Beckwith|first3=J. Bruce|date=1990|title=An anatomic comparison of cebocephaly and ethmocephaly|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/tera.1420420404|journal=[[Teratology]]|language=en|volume=42|issue=4|pages=347–357|doi=10.1002/tera.1420420404|pmid=2255999 |issn=1096-9926}}</ref>
* a small, flat nose with a single nostril<ref name=":1" />
* ear abnormalities<ref name=":0">{{Cite journal|last1=Gorlin|first1=Robert J.|last2=Yunis|first2=Jorge|last3=Anderson|first3=V. Elving|date=1 April 1968|title=Short Arm Deletion of Chromosome 18 in Cebocephaly|url=https://doi.org/10.1001/archpedi.1968.02100010475012|journal=[[American Journal of Diseases of Children]]|volume=115|issue=4|pages=473–476|doi=10.1001/archpedi.1968.02100010475012|pmid=5642351 |issn=0002-922X}}</ref>
* mouth abnormalities (such as [[microstomia]])<ref name=":1" />

The presence of a [[nasal septum]] precludes a diagnosis of cebocephaly.<ref>{{cite book|last1=Som|first1=Peter M.|title=Head and Neck Imaging|date=2011|publisher=Mosby, Elsevier|edition=5|pages=3–97}}</ref> Cebocephaly may cause malformations of the [[sphenoid bone|sphenoid]] and [[ethmoid bone|ethmoid]] bones behind the [[Orbit (anatomy)|orbit]].<ref name=":1" />

== Cause ==
Cebocephaly can be caused by many factors, particularly [[Genetic variation|genetic variations]].<ref>{{Cite journal|last1=Lazjuk|first1=G. I.|last2=Lurie|first2=I. W.|last3=Nedzved|first3=M. K.|date=1976-08-01|title=Further studies on the genetic heterogeneity of cebocephaly.|url=https://jmg.bmj.com/content/13/4/314|journal=Journal of Medical Genetics|language=en|volume=13|issue=4|pages=314–318|pmc=1013422| doi=10.1136/jmg.13.4.314|issn=0022-2593|pmid=957381}}</ref> These include [[18p-]],<ref name=":0" /> 14q deletion,<ref>{{Cite journal|last1=Chen|first1=C. P.|last2=Lee|first2=C. C.|last3=Chen|first3=L. F.|last4=Chuang|first4=C. Y.|last5=Jan|first5=S. W.|last6=Chen|first6=B. F.|date=1997-09-01|title=Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.|url=https://jmg.bmj.com/content/34/9/777|journal=Journal of Medical Genetics|language=en|volume=34|issue=9|pages=777–778|pmc=1051067|doi=10.1136/jmg.34.9.777|issn=0022-2593|pmid=9321769}}</ref> [[13q deletion syndrome|13q deletion]],<ref name=":3">{{Cite journal|last1=Chen|first1=Chih-Ping|last2=Chern|first2=Schu-Rern|last3=Lee|first3=Chen-Chi|last4=Chen|first4=Li-Feng|last5=Chuang|first5=Chun-Yu|last6=Chen|first6=Ming-Hong|date=1998|title=Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291097-0223%28199804%2918%3A4%3C393%3A%3AAID-PD277%3E3.0.CO%3B2-Q|journal=Prenatal Diagnosis|language=en|volume=18|issue=4|pages=393–398|doi=10.1002/(SICI)1097-0223(199804)18:4<393::AID-PD277>3.0.CO;2-Q|pmid=9602489 |s2cid=29381726 |issn=1097-0223}}</ref> and some [[Vertically transmitted infection|vertically transmitted infections]].<ref name=":2">{{Cite journal|last1=Kilic|first1=Nizamettin|last2=Yazici|first2=Zeynep|date=1 September 2005|title=A case of holoprosencephaly and cebocephaly associated to torch infection|url=https://www.sciencedirect.com/science/article/pii/S0165587605001564|journal=[[International Journal of Pediatric Otorhinolaryngology]]|language=en|volume=69|issue=9|pages=1275–1278|doi=10.1016/j.ijporl.2005.03.018|pmid=16061113 |issn=0165-5876}}</ref> It is part of a group of defects called [[holoprosencephaly]].<ref name=":2" /><ref>{{Cite journal|last1=Valkeakari|first1=T.|last2=Anttila|first2=R.|date=1970|title=27. CEBOCEPHALY:A Report of Three New Cases|url=https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.1970.tb14669.x|journal=Acta Paediatrica|language=en|volume=59|issue=S206|pages=147–148|doi=10.1111/j.1651-2227.1970.tb14669.x|pmid=5276963 |s2cid=72634209 |issn=1651-2227}}</ref>

== Diagnosis ==
Before birth, cebocephaly may sometimes be diagnosed using [[ultrasound]].<ref name=":3" /><ref name=":2" /> After birth, cebocephaly is diagnosed based on the characteristic symptoms.<ref name=":2" /> A [[CT scan]] may be used to confirm the diagnosis.<ref name=":2" />

== Prognosis ==
Most infants born with cebocephaly die soon after birth.<ref name=":2" />

== Epidemiology ==
Cebocephaly is very uncommon.<ref>{{Cite journal|last1=Chen|first1=C. P.|last2=Shih|first2=S. L.|last3=Liu|first3=F. F.|last4=Jan|first4=S. W.|date=1 March 1997|title=Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.|url=https://jmg.bmj.com/content/34/3/252|journal=[[Journal of Medical Genetics]]|language=en|volume=34|issue=3|pages=252–255|pmc=1050904| doi=10.1136/jmg.34.3.252|issn=0022-2593|pmid=9132501}}</ref> Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.<ref name=":1" />

== History ==
The word "cebocephaly" is derived from [[Greek language|Greek]] ''kebos'' (monkey), and ''kephale'' (head).

⚫
== See also ==
⚫
* [[Cephalic disorder]]


== References ==
{{Reflist}}


[[Category:Congenital disorders of nervous system]]
[[Category:Congenital disorders of nervous system]]
[[ro:Cebocefalie]]

Latest revision as of 07:35, 4 January 2023

Cebocephaly
Cebocephaly in a 4-month-old girl as a result of 18p-
SymptomsClose-set eyes, flat nose, single nostril
CausesGenetic conditions, some vertically transmitted infections
Diagnostic methodBefore birth: ultrasound
After birth: symptoms, CT scan
PrognosisPoor (high mortality)
Frequency1 in 40,000 deliveries

Cebocephaly (from Greek kebos, "monkey" + kephale, "head") is a developmental anomaly that is part of a group of defects called holoprosencephaly. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no nasal septum). It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries.

Signs and symptoms

[edit]

Cebocephaly causes:

  • two separate eyes set close together[1]
  • a small, flat nose with a single nostril[1]
  • ear abnormalities[2]
  • mouth abnormalities (such as microstomia)[1]

The presence of a nasal septum precludes a diagnosis of cebocephaly.[3] Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit.[1]

Cause

[edit]

Cebocephaly can be caused by many factors, particularly genetic variations.[4] These include 18p-,[2] 14q deletion,[5] 13q deletion,[6] and some vertically transmitted infections.[7] It is part of a group of defects called holoprosencephaly.[7][8]

Diagnosis

[edit]

Before birth, cebocephaly may sometimes be diagnosed using ultrasound.[6][7] After birth, cebocephaly is diagnosed based on the characteristic symptoms.[7] A CT scan may be used to confirm the diagnosis.[7]

Prognosis

[edit]

Most infants born with cebocephaly die soon after birth.[7]

Epidemiology

[edit]

Cebocephaly is very uncommon.[9] Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.[1]

History

[edit]

The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).

See also

[edit]

References

[edit]
  1. ^ a b c d e Souza, James P.; Siebert, Joseph R.; Beckwith, J. Bruce (1990). "An anatomic comparison of cebocephaly and ethmocephaly". Teratology. 42 (4): 347–357. doi:10.1002/tera.1420420404. ISSN 1096-9926. PMID 2255999.
  2. ^ a b Gorlin, Robert J.; Yunis, Jorge; Anderson, V. Elving (1 April 1968). "Short Arm Deletion of Chromosome 18 in Cebocephaly". American Journal of Diseases of Children. 115 (4): 473–476. doi:10.1001/archpedi.1968.02100010475012. ISSN 0002-922X. PMID 5642351.
  3. ^ Som, Peter M. (2011). Head and Neck Imaging (5 ed.). Mosby, Elsevier. pp. 3–97.
  4. ^ Lazjuk, G. I.; Lurie, I. W.; Nedzved, M. K. (1976-08-01). "Further studies on the genetic heterogeneity of cebocephaly". Journal of Medical Genetics. 13 (4): 314–318. doi:10.1136/jmg.13.4.314. ISSN 0022-2593. PMC 1013422. PMID 957381.
  5. ^ Chen, C. P.; Lee, C. C.; Chen, L. F.; Chuang, C. Y.; Jan, S. W.; Chen, B. F. (1997-09-01). "Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly". Journal of Medical Genetics. 34 (9): 777–778. doi:10.1136/jmg.34.9.777. ISSN 0022-2593. PMC 1051067. PMID 9321769.
  6. ^ a b Chen, Chih-Ping; Chern, Schu-Rern; Lee, Chen-Chi; Chen, Li-Feng; Chuang, Chun-Yu; Chen, Ming-Hong (1998). "Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus". Prenatal Diagnosis. 18 (4): 393–398. doi:10.1002/(SICI)1097-0223(199804)18:4<393::AID-PD277>3.0.CO;2-Q. ISSN 1097-0223. PMID 9602489. S2CID 29381726.
  7. ^ a b c d e f Kilic, Nizamettin; Yazici, Zeynep (1 September 2005). "A case of holoprosencephaly and cebocephaly associated to torch infection". International Journal of Pediatric Otorhinolaryngology. 69 (9): 1275–1278. doi:10.1016/j.ijporl.2005.03.018. ISSN 0165-5876. PMID 16061113.
  8. ^ Valkeakari, T.; Anttila, R. (1970). "27. CEBOCEPHALY:A Report of Three New Cases". Acta Paediatrica. 59 (S206): 147–148. doi:10.1111/j.1651-2227.1970.tb14669.x. ISSN 1651-2227. PMID 5276963. S2CID 72634209.
  9. ^ Chen, C. P.; Shih, S. L.; Liu, F. F.; Jan, S. W. (1 March 1997). "Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth". Journal of Medical Genetics. 34 (3): 252–255. doi:10.1136/jmg.34.3.252. ISSN 0022-2593. PMC 1050904. PMID 9132501.
Retrieved from "https://en.wikipedia.org/w/index.php?title=Cebocephaly&oldid=1131462032"