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2012-12-10-15 Holoprosencephaly,semilobar ©Martin Juhas

Holoprosencephaly, semilobar

Martin Juhas, MD, Jozef Janovsky, MD.

Centre of fetal and gynecologic diagnostics, Slovak Republic.

Case report:

A 16-year-old G1P0 patient was referred to our unit at 23 weeks of gestation. She had non-contributive personal or family history. Her first trimester ultrasound was reported to be normal and the first trimester screening was not done. The course of pregnancy was normal and biochemical triple test was negative. Our ultrasound examination revealed following findings:

•    Microcephaly with cloverleaf-shaped head
•    Semilobar type of holopresencephaly
•    Hypotelorism with cataract of left eye
•    Abnormal ears
•    Median cleft
•    Dextrocardia with double inlet single ventricle
•    Lack of gastric bubble – suspicion for esophageal atresia
•    Club feet

Abnormal fetal morphology suggested Patau syndrome. Clinical geneticist indicated amniocentesis with PCR testing immediately, but a normal karyotype was confirmed. Due to multiple abnormalities, the patient opted for termination.

Figure 1:
The image shows the microcephaly.

Figures 2, 3, 4, and 5: The image 2 shows biometry of cloverleaf-shaped head. The image 3 shows semilobar type of holoprosencephaly with fusion of anterior brain structures and absent midline structures.


6, 7: Cataract of left eye.


Figure 8
: The image 8 shows the abnormal ear - microtia.

Figures 9, 10
: Club-feet

Figures 9, 10: Post-morterm fetus, note the microcephaly with median cleft and microtia. Lower extremities with bilateral club-feet.

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