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International Journal of Morphology

versión On-line ISSN 0717-9502

Int. J. Morphol. vol.30 no.1 Temuco mar. 2012 

Int. J. Morphol., 30(1):88-93, 2012.


Use of 3D Multislide CT in the Study of a Fetus with Cyclopia


Utilización de TC Multicorte 3D en el Estudio de un Feto con Ciclopia


*Harry Pachajoa; **Luis Eduardo Vejarano & ***Carolina Isaza

* Profesor y Jefe del Departamento de Ciencias Básicas Médicas. Fundación Clínica Valle del Lili. Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.

** Patólogo, Clínica Comfenalco, Cali, Colombia.

*** Profesora Facultad de Salud, Universidad del Valle, Cali, Colombia.

Correspondence to:

SUMMARY: Cyclopia is a rare congenital malformation incompatible with life; it is characterized by the presence of a single eye in the center position, secondary to alobar holoprosencephaly. Cyclopia etiology is heterogeneous, with a prevalence of 1.05 in 100,000 births. We report a case of cyclopia with sinoftalmía in a fetus of 21 weeks where they use 3D multislice computed tomography as a complementary study.

KEY WORDS: Cyclopia; Holoprosencephaly; Computer tomography; Prenatal diagnosis.

RESUMEN: La ciclopía es una malformación congénita rara e incompatible con la vida, caracterizada por la presencia de un solo ojo en posición central, secundaria a holoprosencefalia alobar. La ciclopía es de etiología heterogénea, con una prevalencia de 1,05 en 100000 nacimientos. Presentamos un caso de ciclopía con sinoftalmía en un feto de 21 semanas en donde se utilizo tomografía computarizada multicorte 3D como estudio complementario.

PALABRAS CLAVE: Ciclopía; Holoprosencefalía; Tomografía; Diagnóstico prenatal.


Cyclopia is a major congenital malformation, resulted from a sequence that starts with a defect in the division of the anterior brain leading to alobar holoprosencephaly and fusion of the eyes characterized by the presence of a central eye as a result of the merger of the two eyes and alobar holoprosencephaly, It is characterized by a single orbit that contains the structure of the eye, and it can be both a cylindrical structure called proboscis, and is usually located above the orbit (Liu et al., 1997; Bendavid et al., 2010).

The prevalence of this malformation is estimated at 1.05 per 100,000 births, including stillbirths, being more common in female fetuses (Källén et al., 1992).

The most severe forms of holoprosencephaly result in severe facial deformities. These anomalies include cyclopia, etmocefalia, central cleft lip and cebocephaly. Cyclopia is the most severe phenotype of holoprosencephaly, which can be divided into alobar, which includes cyclopia, in semilobar and lobar (Table I) (Liu et al.). We report a case of holoprosencephaly which includes the 3D multislice computed tomography as a complementary study.


We present a patient with cyclopia, son of a no consanguineous parents, 35-year old mother. The product of a fourth pregnancy, of a mother with a history of four pregnancies without complications. The mother refers to an institution for fetal death with a prenatal diagnosis on the second trimester of intrauterine growth restriction, alobar holoprosencephaly and cyclopia.

At birth there is a male fetus of 21 weeks gestation, weight 320g, length coccyx skull of 17cm, length skull heel of 24cm, heel length is 3.5cm, the umbilical cord segment measured 11.3x0.8cm. Physical examination found cyclopia with synophthalmia (Figs. 1 and 2).

Fig. 1. General view of 21-week
fetus with cyclopia and synophthalmia.

Fig. 2. Fetus with cyclopia and synophthalmia,
note the presence of two irises in one orbit.

Fig. 3. Multislice computerized tomography
with evidence of alobar holoprosencephaly.

Fig. 4. Multislice computerized tomography
with evidence of alobar holoprosencephaly.

Fig. 5. Alobar holoprosencephaly in
anatomical post-mortem evaluation.

Further studies, presented karyotype which was taken at 20 weeks showing a normal chromosome complement (46, XY). After birth 3D multislice computerized tomography realized, indicating alobar holoprosencephaly, a fusion of thalami and corpus callosum agenesis.

Parents authorize the autopsy where alobar holoprosencephaly is found with hemispheres connected by a bridge of cortical tissue with agenesis of the corpus callosum, the evidence a great single ventricular occupies 40 percent of the brain, a single fusion brain hemisphere and a court shows a large single ventricular cavity drain extra fluids, brain structure occupies a third of the cranial cavity, the hemispheres are seen fused with poor differentiation of convolutions with cerebellar heterotopias and brain stem, brain measures 2.5 x 2 inches and fused thalami.

The search for the etiology of holoprosencephaly in patients is necessary for genetic counseling, which must include a high resolution karyotype, studies for diabetes, perinatal infections and molecular studies that include mutations for SHH, ZIC2, SIX3 and TGIF (Pachajoa et al., 2010), there were no later studies in our patient. Recently Pineda-Alvarez et al (2010) recommended a genetic algorithm in holoprosencephaly.

3D/4D prenatal ultrasound helps in the prenatal diagnosis of the facial birth defects such as cyclopia, facilitating the acceptance of genetic counseling (Chen et al., 2005). The use of computed tomography may be a good alternative in cases that require morphological analysis and autopsy cannot be done because of lack of consent or because there is no qualified personnel to perform the autopsy.


Craniofacial abnormalities most frequently associated with holoprosencephaly are genital abnormalities (24%), postaxial polydactyly (8%), vertebral defects (5%), reduction defects of the limbs (4%) (Orioli & Castilla, 2010), and transposition of the great vessels (4%). Other abnormalities found are synophthalmia (presence of two eyeballs) and microphthalmia (Marcorelles & Shiota, 2010).

The mechanisms of the pathogenesis of cyclopia are unclear, and the etiology of cyclopia is considered heterogeneous because they have linked environmental, teratogenic, chromosomal and monogenic heredity (Cohen & Shiota, 2002). The most important teratogenic factor is diabetes that increases the risk two hundred times; other factors include cytomegalovirus infection, consumption of ethanol and salicylates in the first trimester (Byrne et al., 1987; Martínez-Frías et al., 1998).

A number of genes have been associated with holoprosencephaly and cyclopia, including Sonic Hedgehog (SHH) (Belloni et al., 1996; Chiang et al., 1996) ZIC2 (Brown et al., 2002), SIX3 (Wallis & Muenke, 1999) TGIF (Gripp et al., 2000), and others (Dubourg et al., 2007). Among the chromosomal abnormalities associated with cyclopia, trisomy 13 is the most common (Pachajoa et al., 2008), which was discarded in our patient by conventional karyotype, other abnormalities associated with holoprosencephaly are trisomy 18, triploidy, 7q deletion, and 18p deletion (Thakur et al., 2004; Pachajoa et al., 2007).



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Dirección para correspondencia:

Harry Pachajoa, MD, PhD(c)

Calle 18 No. 122-135, Cali
Teléfono: 57(2): 5552334 extensión 8032


Received: 14-06-2011
Accepted: 02-11-2011

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