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Severe brain malformation

MedGen UID:
832918
•Concept ID:
CN228280
•
Finding

Professional guidelines

PubMed

Diagnosis and Management of Dementia: Review.
Arvanitakis Z, Shah RC, Bennett DA
JAMA 2019 Oct 22;322(16):1589-1599. doi: 10.1001/jama.2019.4782. PMID: 31638686Free PMC Article
MDS clinical diagnostic criteria for Parkinson's disease.
Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, Obeso J, Marek K, Litvan I, Lang AE, Halliday G, Goetz CG, Gasser T, Dubois B, Chan P, Bloem BR, Adler CH, Deuschl G
Mov Disord 2015 Oct;30(12):1591-601. doi: 10.1002/mds.26424. PMID: 26474316
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants.
Taruscio D, Mantovani A
Ann Ist Super Sanita 2023 Oct-Dec;59(4):295-303. doi: 10.4415/ANN_23_04_09. PMID: 38088397
Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1.
Choi HJ, Mitra S, Munni YA, Dash R, Habiba SU, Sohel M, Jahan SI, Jang TJ, Moon IS
Int J Mol Sci 2022 Mar 14;23(6) doi: 10.3390/ijms23063109. PMID: 35328531Free PMC Article
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J, Brunner HG, van Bokhoven H
Clin Genet 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. PMID: 15733261
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

Diagnosis

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
LIS1 functions in normal development and disease.
Reiner O, Sapir T
Curr Opin Neurobiol 2013 Dec;23(6):951-6. Epub 2013 Aug 23 doi: 10.1016/j.conb.2013.08.001. PMID: 23973156
Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature.
Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S
Arch Gynecol Obstet 2007 May;275(5):385-7. Epub 2006 Oct 18 doi: 10.1007/s00404-006-0264-6. PMID: 17047972
Discordant phenotypes in first cousins with UBE3A frameshift mutation.
Molfetta GA, Muñoz MV, Santos AC, Silva WA, Wagstaff J, Pina-Neto JM
Am J Med Genet A 2004 Jun 15;127A(3):258-62. doi: 10.1002/ajmg.a.20723. PMID: 15150776
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization.
Cahana A, Escamez T, Nowakowski RS, Hayes NL, Giacobini M, von Holst A, Shmueli O, Sapir T, McConnell SK, Wurst W, Martinez S, Reiner O
Proc Natl Acad Sci U S A 2001 May 22;98(11):6429-34. Epub 2001 May 8 doi: 10.1073/pnas.101122598. PMID: 11344260Free PMC Article

Prognosis

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.
Bamborschke D, Pergande M, Becker K, Koerber F, Dötsch J, Vierzig A, Weber LT, Cirak S
Brain Dev 2018 Jun;40(6):480-483. Epub 2018 Mar 2 doi: 10.1016/j.braindev.2018.02.008. PMID: 29501407
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM
Pediatr Neurol 2015 Nov;53(5):442-4. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.004. PMID: 26294046
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
The face-brain relationship: a case of the face not predicting the brain.
Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

Clinical prediction guides

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
An essential role for de novo biosynthesis of L-serine in CNS development.
Furuya S
Asia Pac J Clin Nutr 2008;17 Suppl 1:312-5. PMID: 18296366
LIS1-no more no less.
Reiner O, Cahana A, Escamez T, Martinez S
Mol Psychiatry 2002;7(1):12-6. doi: 10.1038/sj.mp.4000975. PMID: 11803439
The face-brain relationship: a case of the face not predicting the brain.
Golden JA, Holmes LB
Clin Dysmorphol 1994 Apr;3(2):164-70. PMID: 8055138
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

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