Proboscis is a rare congenital anomaly where an anterior appendage like structure is seen projecting from the midline fetal face/forehead. Depending on the exact location, this has further been classified into various sub types (e.g. inter-orbital proboscis).
On this page:
The presence of a proboscis can be associated with several anomalies which include:
- trisomy 13
- ethmocephaly 3
- cyclopia: often below the level of the proboscis
A proboscis is best seen on a longitudinal facial profile view as a snout like protrusion from the face/forehead.
History and etymology
The word proboscis is derived from the Greek word proboskis which in turn derives from the combination of the words πρό (pro) meaning: "forth/forward/before" and βόσκω (bosko) meaning: "to feed/nourish"
- proboscis lateralis: considered a different entity
- 1. Huibers M, Papatsonis DN. Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester. J. Matern. Fetal. Neonatal. Med. 2009;22 (12): 1204-6. doi:10.3109/14767050902994721 - Pubmed citation
- 2. Baba K, Okai T, Kozuma S et-al. Fetal abnormalities: evaluation with real-time-processible three-dimensional US--preliminary report. Radiology. 1999;211 (2): 441-6. Radiology (full text) - Pubmed citation
- 3. Mcgahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR Am J Roentgenol. 1990;154 (1): 143-8. AJR Am J Roentgenol (abstract) - Pubmed citation
- 4. Lee GS, Hur SY, Shin JC et-al. Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography. J Clin Ultrasound. 34 (6): 306-8. doi:10.1002/jcu.20237 - Pubmed citation
- 5. Cho FN, Kan YY, Chen SN et-al. Prenatal diagnosis of cyclopia and proboscis in a fetus with normal chromosome at 13 weeks of gestation by three-dimensional transabdominal sonography. Prenat. Diagn. 2005;25 (11): 1059-60. doi:10.1002/pd.1316 - Pubmed citation
- 6. Filly RA, Chinn DH, Callen PW. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. Radiology. 1984;151 (2): 455-9. Radiology (abstract) - Pubmed citation