Agnathia-holoprosencephaly-situs inversus syndrome

An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Mandibular aplasia

Absence of the mandible.


Total: 0

                      


(per page)
PMID (PMCID)