Eyes Fused Midline

1.56

1.57

Alveolar Ridge Cleft

Figure 1.55. Another example of the median cleft syndrome with a normal karyotype and a head ultrasound showing holoprosencephaly. The close-up view shows clefting of the alveolar ridge which is also seen in this syndrome.

Holoprosencephaly results from maldevelopment of the forebrain (prosencephalon). It may occur as an alobar type in which there is a horseshoe-shaped single ventricle; a semilobar type in which there is partial differentiation of the ventricles, especially at the temporo-occipital horns; or a lobar type in which there is partial fusion of the frontal lobes and a narrow body of the lateral ventricles.

Figure 1.56. Another example of the median cleft syndrome in an infant widi trisomy 13. Note the hypotelorism and midline position of die cleft lip. Embryologically this differs from the more common unilateral or bilateral cleft lip.

Figure 1.57. Note the midline hypopigmentation of the philtrum with lack of true clefting of the lip. This finding suggests that further evaluation should be done. Central nervous system evaluation revealed holoprosencephaly.

Upper Alveolar Ridge Newborn BabyHypotelorism

Figure 1.58. Notching of the alveolar ridge in the same infant as in Figure 1.57 with median cleft syndrome.

Figure 1.59. Holoprosencephaly may have other clinical manifestions. This infant is an example of cyclopia without a nose or proboscis. In cyclopia there may be a single, double or absent proboscis above or below the fused orbits. Note the marked hypotelorism resulting in fused eyes (cyclopia), lack of nose, and small median cleft of the upper lip. There is also severe microcephaly.

Figure 1.60. This is an example of cyclopia with a superior proboscis. Note the median cleft in the single fused lower eyelids, the fused orbits, and the hypoplasia of the facial bones. This is another example of median cleft syndrome with holoprosencephaly.

Figure 1.60. This is an example of cyclopia with a superior proboscis. Note the median cleft in the single fused lower eyelids, the fused orbits, and the hypoplasia of the facial bones. This is another example of median cleft syndrome with holoprosencephaly.

Hypotelorism

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Responses

  • maija
    Is there a picture of a child with Holoprosencephaly?
    7 years ago

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