Least severe end of holoprosencephaly (HPE) spectrum (~ 19% is lobar subtype)
Neuropathology definition of LHPE specifies at least 1 gyrus in continuity across midline
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Calloni SF et al: Disorders of ventral induction/spectrum of holoprosencephaly. Neuroimaging Clin N Am. 29(3):411-21, 2019
Kousa YA et al: Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):206-13, 2018
Weiss K et al: Holoprosencephaly from conception to adulthood. Am J Med Genet C Semin Med Genet. 178(2):122-7, 2018
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
Kakar N et al: STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 134(1):45-51, 2015
Peltekova IT et al: Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am J Med Genet A. 164A(12):3132-6, 2014
Radojicic J et al: Rare disease: lobar holoprosencephaly with a median cleft lip-case report. Cleft Palate Craniofac J. 53(1):109-17, 2014
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
Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 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
Wong AM et al: Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. Prenat Diagn. 25(4):296-9, 2005
Blin G et al: Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 24(4):476-8, 2004
Hahn JS et al: Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 31(2):79-88, 2004
Kinsman SL: White matter imaging in holoprosencephaly in children. Curr Opin Neurol. 17(2):115-9, 2004
Sepulveda W et al: First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med. 23(6):761-5; quiz 766-7, 2004
Takahashi TS et al: Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis. J Neurocytol. 33(1):23-35, 2004
Thakur S et al: Spectrum of holoprosencephaly. Indian J Pediatr. 71(7):593-7, 2004
Takahashi T et al: Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. Cereb Cortex. 13(12):1299-312, 2003
Bernard JP et al: A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 19(6):605-7, 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
Pilu G et al: Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. Ultrasound Obstet Gynecol. 4(1):65-7, 1994
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
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TERMINOLOGY
Definitions
Lobar holoprosencephaly (LHPE)
Least severe end of holoprosencephaly (HPE) spectrum (~ 19% is lobar subtype)
Neuropathology definition of LHPE specifies at least 1 gyrus in continuity across midline
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Calloni SF et al: Disorders of ventral induction/spectrum of holoprosencephaly. Neuroimaging Clin N Am. 29(3):411-21, 2019
Kousa YA et al: Prenatal diagnosis of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):206-13, 2018
Weiss K et al: Holoprosencephaly from conception to adulthood. Am J Med Genet C Semin Med Genet. 178(2):122-7, 2018
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
Kakar N et al: STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 134(1):45-51, 2015
Peltekova IT et al: Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am J Med Genet A. 164A(12):3132-6, 2014
Radojicic J et al: Rare disease: lobar holoprosencephaly with a median cleft lip-case report. Cleft Palate Craniofac J. 53(1):109-17, 2014
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
Blaas HG et al: Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn. 29(4):312-25, 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
Wong AM et al: Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation. Prenat Diagn. 25(4):296-9, 2005
Blin G et al: Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 24(4):476-8, 2004
Hahn JS et al: Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 31(2):79-88, 2004
Kinsman SL: White matter imaging in holoprosencephaly in children. Curr Opin Neurol. 17(2):115-9, 2004
Sepulveda W et al: First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign. J Ultrasound Med. 23(6):761-5; quiz 766-7, 2004
Takahashi TS et al: Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis. J Neurocytol. 33(1):23-35, 2004
Thakur S et al: Spectrum of holoprosencephaly. Indian J Pediatr. 71(7):593-7, 2004
Takahashi T et al: Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis. Cereb Cortex. 13(12):1299-312, 2003
Bernard JP et al: A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull. Ultrasound Obstet Gynecol. 19(6):605-7, 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
Pilu G et al: Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly. Ultrasound Obstet Gynecol. 4(1):65-7, 1994
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