Holoprosencephaly – Fetus
Please click to enlarge.
Note what signs you see.
I (N. Zymak-Zakutnia, M.D.) see:
- Fetus, about 20 weeks gestation, details from previous whole body image.
- Skin, thin.
- Proboscis, infra-orbital.
- Tongue, protruding .
- Upper limb, relatively long, five fingers (no polydactyly).
PERSPECTIVE: patients with proboscis not associated with extra-cephalic anomalies, such patients are unlikely to represent Patau or trisomy 13 events (I like to call such instances “isolated or cephalad holoprosencephaly). Patients with holoprosencephaly associated with polydactyly, omphaloceles, renal defects or other malformations, for the most part represent Patau or trisomy 13 syndrome. One exception concerns micropenis which is observed in either category of holoprosencephalies (likely to reflect disruption of growth-hormonal factors associated with holoprosencephaly of any sort).