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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
- Alobar holoprosencephaly (ALHPE)
- Most severe form of holoprosencephaly (HPE)
- Complete/nearly complete lack of separation of cerebral hemispheres (i.e., no lobes)
- Alobar holoprosencephaly (ALHPE)
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Abe Y et al: Nationwide epidemiological survey of holoprosencephaly in Japan. Pediatr Int. 62(5):593-9, 2020
- El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
- Mzoughi S et al: PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 6(2):eaax9852, 2020
- De Franco E et al: A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. Am J Hum Genet. 104(5):985-9, 2019
- Kruszka P et al: A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly. Am J Hum Genet. 104(5):990-3, 2019
- Meagher S et al: Alobar holoprosencephaly detected in a 9-week embryo. Am J Obstet Gynecol. 221(1):73-4, 2019
- Syngelaki A et al: Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13weeks' gestation. Ultrasound Obstet Gynecol. 54(4):468-76, 2019
- Syngelaki A et al: Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 50(1):45-8, 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
- Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
- Hahn JS et al: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
- Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
- Bardo DME. Pediatric neuroradiology, part 1: embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
- Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
- Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
- Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
- Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
- Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
- Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. 291-439, 2005
- Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
- Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
- Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
- Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
- Alobar holoprosencephaly (ALHPE)
- Most severe form of holoprosencephaly (HPE)
- Complete/nearly complete lack of separation of cerebral hemispheres (i.e., no lobes)
- Alobar holoprosencephaly (ALHPE)
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Abe Y et al: Nationwide epidemiological survey of holoprosencephaly in Japan. Pediatr Int. 62(5):593-9, 2020
- El-Dessouky SH et al: Prenatal ultrasound findings of holoprosencephaly spectrum: unusual associations. Prenat Diagn. 40(5):565-76, 2020
- Mzoughi S et al: PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Sci Adv. 6(2):eaax9852, 2020
- De Franco E et al: A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. Am J Hum Genet. 104(5):985-9, 2019
- Kruszka P et al: A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly. Am J Hum Genet. 104(5):990-3, 2019
- Meagher S et al: Alobar holoprosencephaly detected in a 9-week embryo. Am J Obstet Gynecol. 221(1):73-4, 2019
- Syngelaki A et al: Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13weeks' gestation. Ultrasound Obstet Gynecol. 54(4):468-76, 2019
- Syngelaki A et al: Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 50(1):45-8, 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
- Winter TC et al: Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Radiographics. 35(1):275-90, 2015
- Hahn JS et al: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 154C(1):120-32, 2010
- Marcorelles P et al: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 154C(1):109-19, 2010
- Bardo DME. Pediatric neuroradiology, part 1: embryologic basis for brain malformation. Applied Radiology. 38(7):29-40, 2009
- Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 2009
- Mighell AS et al: Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 29(4):442-9, 2009
- Volpe P et al: Disorders of prosencephalic development. Prenat Diagn. 29(4):340-54, 2009
- Encha-Razavi F et al: A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40(2):180-7, 2008
- Timor-Tritsch IE et al: Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly. Ultrasound Obstet Gynecol. 32(6):744-50, 2008
- Barkovich AJ: Congenital malformations of the brain and skull. In Pediatric Neuroimaging. 291-439, 2005
- Aguilella C et al: Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 112(2):131-4, 2003
- Chen CP et al: Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Prenat Diagn. 22(1):5-7, 2002
- Kjaer I et al: Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 39(3):357-63, 2002
- Jeng LB et al: Genetic advances in central nervous system malformations in the fetus and neonate. Semin Pediatr Neurol. 8(2):89-99, 2001
