holoprosencephaly type 9 (pituitary anomalies with holoprosencephaly-like features)
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Introduction
Also see holoprosencephaly
Pathology
- defective anterior pituitary formation & pan-hypopituitarism, with or without overt forebrain cleavage abnormalities
- holoprosencephaly-like midfacial hypoplasia
Genetics
- associated with defects in GLI2