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IMAGES IN NEONATOLOGY
Year : 2014  |  Volume : 3  |  Issue : 3  |  Page : 176-177

Alobar holoprosencephaly with synopthalmia and proboscis


1 Department of Pediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India
2 Department of Pedodontics, Vyas Dental College, Jodhpur, Rajasthan, India
3 Department of Conservative Dentistry and Endodontics, Daswani Dental College, Kota, Rajasthan, India

Date of Web Publication8-Sep-2014

Correspondence Address:
Dr. Prashant Babaji
Department of Pedodontics, Vyas Dental College, Jodhpur -342 001, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.140415

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  Abstract 

Anomalies during growth and development do occur. Cyclopia is an unusual anomaly in which the anterior brain and the midline mesodermal structures develop anomalously. Cyclopia is seen in severe form of holopresencephaly with abnormal position of nose. This case report presents with a rare case of synopthalmia with proboscis.

Keywords: Holoprosencephaly, synophtalmia, proboscis


How to cite this article:
Singh A, Babaji P, Singh S, Sekar S, Kumar A, Gupta V. Alobar holoprosencephaly with synopthalmia and proboscis. J Clin Neonatol 2014;3:176-7

How to cite this URL:
Singh A, Babaji P, Singh S, Sekar S, Kumar A, Gupta V. Alobar holoprosencephaly with synopthalmia and proboscis. J Clin Neonatol [serial online] 2014 [cited 2019 Jun 17];3:176-7. Available from: http://www.jcnonweb.com/text.asp?2014/3/3/176/140415


  Introduction Top


Hypotelorism is a decrease in the inter-orbital distance, which is an uncommon disorder. It is most commonly associated with central nervous system abnormalities, especially holoprosencephaly malformation sequence. Holoprosencephaly is a central nervous system disorder that develops due to failure of the prosencephalon to properly cleave in the early stages of development. Cyclopia is a congenital abnormality consisting of fused orbits and a single eye and is the most extreme form of alobar holoprosencephaly. [1] Cyclopia is commonly divided into true cyclopia and synophthalmia. True cyclopia is very rare, where two eyes are completely fused. Synophthalmia is more commonly seen and is characterized by fusion of two eyes by varying degrees. [2] Alobar holoprosencephaly is a most severe form of holoprosencephaly and its prognosis is invariably poor.

Historically, the term cyclops is Greek/Latin in origin and was used to describe 1-eyed giants or monsters. The orbit may contain 1 eye (monophthalmia) or 2 fused eyeballs (synophthalmia). Occasionally the eyeball is completely absent (anophthalmia). These facial anomalies are usually associated with holoprosencephalic disorders of the brain. [3] Cyclopia is often associated with anencephaly, between the 4 th and 8 th week of gestation. It cannot be treated or cured. The incidence is 1:1300 in born animals and 1:250 in embyos. It is more common in the female fetus. [3]

A probend is a female infant born to 21-year-old female through normal vaginal delivery. Birth weight of infant was 2.93 kg. There was neither history of consanguineous marriage nor positive family history. Fetus born with multiple facial anomalies like fused eyes which were positioned at the root of the nose and abnormal positioned nose above the eyes [Figure 1] and [Figure 2].
Figure 1: Image of an infant having alobar holopresencephaly with synophthalmia and proboscis

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Figure 2: Image of an infant having proboscis and synophthalmia

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Cyclopia is associated with some chromosomal aberrations like; trisomy 13 (Patausyndrome), trisomy 18, triploidy, terminal deletion 7q and deletion 11q. [2],[3] The overall prevalence of holoprosencephaly is 1/16000 live birth. It has been associated with autosomal-dominant, recessive and monogenic inheritance, infectious (cytomegalovirus, toxoplasmosis), toxic (hydantoin), maternal diabetes, first trimester bleeding and dizygotic twinning. [1]

Alobar holoprosencephaly is characteristically presents with a monoventricular cavity, fused thalami and absence of midline structures such as the corpus callosum and falx cerebri, hypophysis, endocranial abnormalities, fused eye present at the root of nose (cyclopia), abnormally positioned nose above the fused eye (proboscis), absence of facial bones, polydactaly, syndactaly, absence of the facial midline bones above the maxilla and developmental defect in the fronto-nasal facial process. [1],[2],[3] The present case reflects the more extreme form of alobar holoprosencephaly [Figure 1] and [Figure 2] with synophthalmia (fused orbits and a single eyeball), forehead proboscis.

Prenatal diagnosis can be carried out through ultra sound examination and amniocentesis for fetal karyotyping. [3] Holoprosencephaly can be diagnosed prenatally. [1] Most of infant born with such anomalies are still born or die after birth. Prognosis is poor for severe malformation. Mild form presents with various degree of mental retardation. Termination of pregnancy is advised if determined prenatally.

 
  References Top

1.Karantanas AH, Papanikolaou N, Danos A, Antonakopoulos G. Cyclopia and exadactyly: CT and MRI findings. Dentomaxillofac Radiol 1999;28:372-4.  Back to cited text no. 1
    
2.Yilmaz F, Uzunlar AK, Kilinç N, Bayhan G, Gürkan F, Yayla M. A case of cyclopia. Perinatal Journal. 1998;6:84-5.  Back to cited text no. 2
    
3.Jin B, Al-Abbadi MA, Puder KS. Pathologic quiz case: A 32-year-old woman with an abnormal female fetus at 19 weeks of gestation. Cyclopia. Arch Pathol Lab Med 2005;129:e19-20.  Back to cited text no. 3
    


    Figures

  [Figure 1], [Figure 2]



 

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