Incomplete separation of prosencephalon (hemispheres + deep gray nuclei)
Failure to delineate normal prosencephalic midline with absent/incomplete hemispheric & basal cleavage
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
Pascoe HM et al: Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. Pediatr Radiol. ePub, 2020
Dubourg C et al: Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):258-69, 2018
Yang E et al: A Practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
Gregory LC et al: The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol (Oxf). 82(5):728-38, 2015
Kruszka P et al: Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. J Craniofac Surg. 26(1):3-5, 2015
Petryk A et al: Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 4(1):17-32, 2015
Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
Lami F et al: Holoprosencephaly: report of four cases and genotype-phenotype correlations. J Genet. 92(1):97-101, 2013
Arora K et al: Teaching NeuroImages: fused brain: does face predict the brain? Neurology. 79(23):e201, 2012
Fernandes M et al: The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin Genet. 73(5):413-23, 2008
Richieri-Costa A et al: Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet A. 140(23):2594-7, 2006
Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
Plawner LL et al: Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 59(7):1058-66, 2002
Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Holoprosencephaly (HPE)
Definitions
Incomplete separation of prosencephalon (hemispheres + deep gray nuclei)
Failure to delineate normal prosencephalic midline with absent/incomplete hemispheric & basal cleavage
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
Pascoe HM et al: Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. Pediatr Radiol. ePub, 2020
Dubourg C et al: Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):258-69, 2018
Yang E et al: A Practical approach to supratentorial brain malformations: what radiologists should know. Radiol Clin North Am. 55(4):609-27, 2017
Griffiths PD et al: In utero MR imaging of fetal holoprosencephaly: a structured approach to diagnosis and classification. AJNR Am J Neuroradiol. 37(3):536-43, 2016
Kaliaperumal C et al: Holoprosencephaly: antenatal and postnatal diagnosis and outcome. Childs Nerv Syst. 32(5):801-9, 2016
Gregory LC et al: The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol (Oxf). 82(5):728-38, 2015
Kruszka P et al: Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. J Craniofac Surg. 26(1):3-5, 2015
Petryk A et al: Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 4(1):17-32, 2015
Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
Lami F et al: Holoprosencephaly: report of four cases and genotype-phenotype correlations. J Genet. 92(1):97-101, 2013
Arora K et al: Teaching NeuroImages: fused brain: does face predict the brain? Neurology. 79(23):e201, 2012
Fernandes M et al: The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin Genet. 73(5):413-23, 2008
Richieri-Costa A et al: Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet A. 140(23):2594-7, 2006
Hayashi M et al: Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly. Acta Neuropathol. 107(3):190-6, 2004
Barkovich AJ et al: Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23(1):143-50, 2002
Blaas HG et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 19(1):24-38, 2002
Plawner LL et al: Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 59(7):1058-66, 2002
Simon EM et al: The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23(1):151-6, 2002
Simon EM et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43(9):787-91, 2001
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