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Cebocephaly

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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

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

  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.
  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.
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