Microform holoprosencephaly

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.

Anophthalmia

Absence of the globe or eyeball.


Total: 2

                       


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PMID (PMCID)
17096318
 FEMALE Child
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC.
Am J Med Genet A. 2006;140(23):2571-6.
Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome.
17096318
 FEMALE Child
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC.
Am J Med Genet A. 2006;140(23):2571-6.
We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly.