Ethmocephaly with amniotic band syndrome

Middle East Afr J Ophthalmol. 2012 Oct;19(4):429-31. doi: 10.4103/0974-9233.102769.


Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature.

Keywords: Amniotic Band Syndrome Ethmocephaly; Holoprosencephaly; Hypotelorism; Proboscis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Amniotic Band Syndrome / diagnosis*
  • Fatal Outcome
  • Holoprosencephaly / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Tomography, X-Ray Computed
  • Torso / abnormalities*