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Lateral ventricular asymmetry

MedGen UID:
867526
Concept ID:
C4021909
Anatomical Abnormality
Synonym: Asymmetric ventricles
 
HPO: HP:0100960

Definition

Abnormal difference in size between the left and right lateral cerebral ventricles. [from HPO]

Term Hierarchy

Conditions with this feature

Holoprosencephaly 9
MedGen UID:
324369
Concept ID:
C1835819
Disease or Syndrome
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).

Professional guidelines

PubMed

Fullard K, Maller JJ, Welton T, Lyon M, Gordon E, Koslow SH, Grieve SM
J Clin Neurosci 2019 May;63:55-61. Epub 2019 Feb 28 doi: 10.1016/j.jocn.2019.02.007. PMID: 30827879
Nordmeyer J, Khambadkone S, Coats L, Schievano S, Lurz P, Parenzan G, Taylor AM, Lock JE, Bonhoeffer P
Circulation 2007 Mar 20;115(11):1392-7. Epub 2007 Mar 5 doi: 10.1161/CIRCULATIONAHA.106.674259. PMID: 17339542
Bigler ED, Tate DF, Miller MJ, Rice SA, Hessel CD, Earl HD, Tschanz JT, Plassman B, Welsh-Bohmer KA
J Int Neuropsychol Soc 2002 Nov;8(7):925-33. doi: 10.1017/s1355617702870072. PMID: 12405544

Recent clinical studies

Etiology

Petpichetchian C, Carpineta L, Brown R
Fetal Diagn Ther 2023;50(3):179-186. Epub 2023 May 16 doi: 10.1159/000531091. PMID: 37231824
Arslan G, Ozdemir NBU
Neurol India 2020 Nov-Dec;68(6):1367-1373. doi: 10.4103/0028-3886.304115. PMID: 33342870
Kiroğlu Y, Karabulut N, Oncel C, Yagci B, Sabir N, Ozdemir B
Surg Radiol Anat 2008 May;30(3):249-55. Epub 2008 Feb 6 doi: 10.1007/s00276-008-0314-9. PMID: 18253688
Achiron R, Yagel S, Rotstein Z, Inbar O, Mashiach S, Lipitz S
Obstet Gynecol 1997 Feb;89(2):233-7. doi: 10.1016/S0029-7844(96)00506-6. PMID: 9015026
Grosman H, Stein M, Perrin RC, Gray R, St Louis EL
Can Assoc Radiol J 1990 Dec;41(6):342-6. PMID: 2257506

Diagnosis

Petpichetchian C, Carpineta L, Brown R
Fetal Diagn Ther 2023;50(3):179-186. Epub 2023 May 16 doi: 10.1159/000531091. PMID: 37231824
Razmara E, Azimi H, Tavasoli AR, Fallahi E, Sheida SV, Eidi M, Bitaraf A, Farjami Z, Daneshmand MA, Garshasbi M
Eur J Med Genet 2020 Dec;63(12):104096. Epub 2020 Nov 11 doi: 10.1016/j.ejmg.2020.104096. PMID: 33186761
Li AE, Wilkinson MD, McGrillen KM, Stoodley MA, Magnussen JS
Clin Neuroradiol 2015 Dec;25(4):349-60. Epub 2015 Apr 9 doi: 10.1007/s00062-015-0383-1. PMID: 25854921
Kiroğlu Y, Karabulut N, Oncel C, Yagci B, Sabir N, Ozdemir B
Surg Radiol Anat 2008 May;30(3):249-55. Epub 2008 Feb 6 doi: 10.1007/s00276-008-0314-9. PMID: 18253688
Castellanos FX, Giedd JN, Marsh WL, Hamburger SD, Vaituzis AC, Dickstein DP, Sarfatti SE, Vauss YC, Snell JW, Lange N, Kaysen D, Krain AL, Ritchie GF, Rajapakse JC, Rapoport JL
Arch Gen Psychiatry 1996 Jul;53(7):607-16. doi: 10.1001/archpsyc.1996.01830070053009. PMID: 8660127

Prognosis

Petpichetchian C, Carpineta L, Brown R
Fetal Diagn Ther 2023;50(3):179-186. Epub 2023 May 16 doi: 10.1159/000531091. PMID: 37231824
Pooh RK, Nakagawa Y, Nagamachi N, Pooh KH, Maeda K, Fukui R, Aono T
Croat Med J 1998 Jun;39(2):147-57. PMID: 9575270
Achiron R, Yagel S, Rotstein Z, Inbar O, Mashiach S, Lipitz S
Obstet Gynecol 1997 Feb;89(2):233-7. doi: 10.1016/S0029-7844(96)00506-6. PMID: 9015026
Grosman H, Stein M, Perrin RC, Gray R, St Louis EL
Can Assoc Radiol J 1990 Dec;41(6):342-6. PMID: 2257506

Clinical prediction guides

Pooh RK, Nakagawa Y, Nagamachi N, Pooh KH, Maeda K, Fukui R, Aono T
Croat Med J 1998 Jun;39(2):147-57. PMID: 9575270
Batton DG, Swails TL
Am J Perinatol 1998 Mar;15(3):183-6. doi: 10.1055/s-2007-993922. PMID: 9572374
Grosman H, Stein M, Perrin RC, Gray R, St Louis EL
Can Assoc Radiol J 1990 Dec;41(6):342-6. PMID: 2257506

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