Holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.

Facial asymmetry

An abnormal difference between the left and right sides of the face.


Total: 1

                      


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PMID (PMCID)
17230485
FEMALE Adult
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.
Castori M, Douzgou S, Silvestri E, Encha-Razavi F, Dallapiccola B.
Am J Med Genet A. 2007;143A(3):277-84.
We report on a 23-week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the holoprosencephaly-diencephalic hamartoblastoma (HDH) association.