Ethmocephaly caused by de novo translocation 18;21--prenatal diagnosis.
Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21.
Goldstein
Israel
I
Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel. itskovitz@rambam.health.gov.il
Weissman
Amir
A
Brill-Zamir
Ronit
R
Laevsky
Ilana
I
Drugan
Arie
A
D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D016142:Holoprosencephaly / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal