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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 5.

Figure 5.

Microforms of holoprosencephaly (HPE) spectrum with milder craniofacial anomalies in the absence of neurologic findings

A. Premaxillary agenesis with repaired bilateral clefts of the lip

B. Absence of nasal bones and cartilage with a narrow nasal bridge

C. Single central maxillary incisor

D. Premaxillary agenesis, repaired unilateral cleft of the lip, and bilateral iris coloboma

E. Close-up showing single central maxillary incisor

F. This woman has a child with HPE. She has closely spaced eyes and narrow nasal bridge as her only manifestations.

G. Single central incisor

H. Prominent midline palatal ridge

I. Premaxillary agenesis with bilateral cleft lip and palate in a child with pituitary hypoplasia and growth hormone deficiency

J. Sagittal T1-weighted MRI showing pituitary hypoplasia (red arrow)

Gropman & Muenke [2005] Management of Genetic Syndromes. Copyright John Wiley & Sons Limited. Reproduced with permission.

From: Holoprosencephaly Overview

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