Cebocephaly: Difference between revisions
Content deleted Content added
m →Cause: Additional reference for holoprosencephaly. |
Minor wording, grammar, links, formatting and clarification |
||
| Line 7: | Line 7: | ||
| pronounce = |
| pronounce = |
||
| field = |
| field = |
||
| symptoms = |
| symptoms = Close-set eyes, flat nose, single nostril |
||
| complications = |
| complications = |
||
| onset = |
| onset = |
||
| duration = |
| duration = |
||
| types = |
| types = |
||
| causes = |
| causes = Genetic conditions, some [[vertically transmitted infections]] |
||
| risks = |
| risks = |
||
| diagnosis = |
| diagnosis = Before birth: [[ultrasound]]<br /> |
||
After birth: symptoms, [[CT scan]] |
|||
| differential = |
| differential = |
||
| prevention = |
| prevention = |
||
| treatment = |
| treatment = |
||
| medication = |
| medication = |
||
| prognosis = |
| prognosis = Poor (high mortality) |
||
| frequency = 1 in 40,000 deliveries |
| frequency = 1 in 40,000 deliveries |
||
| deaths = |
| deaths = |
||
}} |
}} |
||
'''Cebocephaly''' (from [[Greek language|Greek]] ''kebos'', monkey + ''kephale'', head) is a developmental anomaly |
'''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. |
||
== Signs and symptoms == |
== Signs and symptoms == |
||
Cebocephaly causes: |
Cebocephaly causes: |
||
* two separate |
* two separate eyes set close together<ref name=":1">{{Cite journal|last=Souza|first=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|issn=1096-9926}}</ref> |
||
* a small, flat |
* a small, flat nose with a single nostril<ref name=":1" /> |
||
* ear |
* ear abnormalities<ref name=":0">{{Cite journal|last=Gorlin|first=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|issn=0002-922X}}</ref> |
||
* mouth |
* mouth abnormalities (such as [[microstomia]])<ref name=":1" /> |
||
The presence of a [[nasal septum]] |
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 == |
== Cause == |
||
Cebocephaly |
Cebocephaly can be caused by many factors, particularly [[Genetic variation|genetic variations]].<ref>{{Cite journal|last=Lazjuk|first=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|doi=10.1136/jmg.13.4.314|issn=0022-2593|pmid=957381}}</ref> These include [[18p-]],<ref name=":0" /> 14q deletion,<ref>{{Cite journal|last=Chen|first=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|doi=10.1136/jmg.34.9.777|issn=0022-2593|pmid=9321769}}</ref> [[13q deletion syndrome|13q deletion]],<ref name=":3">{{Cite journal|last=Chen|first=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|issn=1097-0223}}</ref> and some [[Vertically transmitted infection|vertically transmitted infections]].<ref name=":2">{{Cite journal|last=Kilic|first=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|issn=0165-5876}}</ref> It is part of a group of defects called [[holoprosencephaly]].<ref name=":2" /><ref>{{Cite journal|last=Valkeakari|first=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|issn=1651-2227}}</ref> |
||
== Diagnosis == |
== Diagnosis == |
||
| Line 43: | Line 43: | ||
== Prognosis == |
== Prognosis == |
||
Most |
Most infants born with cebocephaly die soon after birth.<ref name=":2" /> |
||
== Epidemiology == |
== Epidemiology == |
||
Cebocephaly is very uncommon.<ref>{{Cite journal|last=Chen|first=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|doi=10.1136/jmg.34.3.252|issn=0022-2593|pmid=9132501}}</ref> Some estimates include 1 in 40,000 neonatal deliveries.<ref name=":1" /> |
Cebocephaly is very uncommon.<ref>{{Cite journal|last=Chen|first=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|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 == |
== History == |
||
Revision as of 22:42, 17 November 2021
| Cebocephaly | |
|---|---|
| File:Cebocephaly.png | |
| Cebocephaly in two unrelated infants as a result of 18p- | |
| Symptoms | Close-set eyes, flat nose, single nostril |
| Causes | Genetic conditions, some vertically transmitted infections |
| Diagnostic method | Before birth: ultrasound After birth: symptoms, CT scan |
| Prognosis | Poor (high mortality) |
| Frequency | 1 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
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
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
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
Most infants born with cebocephaly die soon after birth.[7]
Epidemiology
Cebocephaly is very uncommon.[9] Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.[1]
History
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).
See also
References
- ^ 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.
- ^ 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.
- ^ Som, Peter M. (2011). Head and Neck Imaging (5 ed.). Mosby, Elsevier. pp. 3–97.
- ^ 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. PMID 957381.
- ^ 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. PMID 9321769.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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. PMID 9132501.