Aprosencephaly: Failed development of prosencephalon (forebrain precursor)
XK aprosencephaly: Syndromal aprosencephaly associated with limb, heart, genital defects
Atelencephaly: Abnormal prosencephalon division into telencephalon/diencephalon with only rudimentary diencephalic structures formed
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Fallet-Bianco C: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):214-28, 2018
Nagaraj UD et al: Prenatal evaluation of atelencephaly. Pediatr Radiol. 46(1):145-7, 2016
Laure-Kamionowska M et al: Holoprosencephaly with agenesia of the prosencephalic ventricle. Folia Neuropathol. 53(4):387-94, 2015
Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
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
Pasquier L et al: First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. J Med Genet. 42(1):e4, 2005
Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
McPherson E et al: Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res A Clin Mol Teratol. 70(8):537-44, 2004
Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
Sergi C et al: The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly. Acta Neuropathol (Berl). 99(3):277-84, 2000
al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Aprosencephaly: Failed development of prosencephalon (forebrain precursor)
XK aprosencephaly: Syndromal aprosencephaly associated with limb, heart, genital defects
Atelencephaly: Abnormal prosencephalon division into telencephalon/diencephalon with only rudimentary diencephalic structures formed
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Fallet-Bianco C: Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet. 178(2):214-28, 2018
Nagaraj UD et al: Prenatal evaluation of atelencephaly. Pediatr Radiol. 46(1):145-7, 2016
Laure-Kamionowska M et al: Holoprosencephaly with agenesia of the prosencephalic ventricle. Folia Neuropathol. 53(4):387-94, 2015
Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. 36(4):353-5, 2010
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
Pasquier L et al: First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. J Med Genet. 42(1):e4, 2005
Renzetti G et al: XK-aprosencephaly and related entities. Am J Med Genet A. 138(4):401-10, 2005
McPherson E et al: Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? Birth Defects Res A Clin Mol Teratol. 70(8):537-44, 2004
Kajantie E et al: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype. Clin Dysmorphol. 11(4):299-301, 2002
Sergi C et al: The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly. Acta Neuropathol (Berl). 99(3):277-84, 2000
al-Gazali LI et al: XK aprosencephaly. Clin Dysmorphol. 7(2):143-7, 1998
Townes PL et al: XK aprosencephaly and anencephaly in sibs. Am J Med Genet. 29(3):523-8, 1988
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