Cebocephaly

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Cebocephaly
Cebocephaly (2).png
Cebocephaly in a 4-month-old girl 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)
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.

Contents

Signs and symptoms

Cebocephaly causes:

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]

In syndromes

Cebocephaly is associated with Patau syndrome, Hartsfield syndrome, and Smith-Lemli-Opitz syndrome

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. 1 2 3 4 5 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. 1 2 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. 1 2 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. 1 2 3 4 5 6 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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