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2012-09-04-08 Holoprosencephaly ©Khodjaeva  

Semilobar holoprosenencephaly, cebocephaly, metopic synostosis, trisomy 18.
Guzal Khodjaeva,MD1 MBBS, MD(AM), DMRD, Said-Azim Sultanov, MD1, Ergash Tadjiddinov, MD1.

1    Scientific Medical Center of Obstetrics and Gynecology, Republic of Uzbekistan

Case report:

A 30- year- old woman (G4P3) was referred to our antenatal unit at 31 weeks for sonographic examination. Her family and medical histories were remarkable. Her marriage is consanguineous. She is married to her cousin on her maternal side, her father-in-law is her uncle. She has two healthy children, but her previous pregnancy ended by miscarriage at 11-12 weeks. Neither biochemical nor ultrasound screening were carried out in the first trimester.

Our ultrasound examination found a single fetus whose BPD, OFD, HC, AC  was appropriate to 22 weeks, 21-22 weeks, 20-21 weeks, 26 weeks, respectively. The lengths of long bones were at the 5th percentile. Polyhydramnios was also present (AFI:289 mm). Amniocentesis was performed. Karyotype was  trisomy 18. The parents decided to terminate this pregnancy. 

Autopsy confirmed  the  semilobar holoprosenencephaly, microphtalmia, cataracts, absence of nasal bones. In order to confirm choanal atresia injection of the dye into the nostrils was performed. The passage via the both choanas to the oropharynx was blocked due to the choanal atresia.
Here are some of the images that we obtained:

Figure 1: Semi-lobar holoprosencephaly, a singular monoventricle. Incompletely formed interhemispheric fissure, absence of cavum septum pellucidum, anterior horns, agenesis of corpus callosium. Note separated temporal horns. 

Figure 2: Microcephalia, rudimentary nose, absence of philtrum, micrognatia

Figure 3: Proboscis, single nostrils

Figure 4: Facial cleft and single nostril

Figure 5: Face, cebocephaly, rudimentary nose, two orbits that are in close approximation consistent with hypotelorism

Figure 6: Cranial synostosis of metopic suture.

Figure 7: Cataract of right lens.

Figure 8: Nasolacrimal duct cysts (Dacriocele)
Hypotelorism,  microphtalmia, cataract. (Image made from cranial side)

Figure 9: Elf’s ear

Figure 10: Low set ear, preauricular tag   

Figure 11: Four-chamber view

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