2018
DOI: 10.1002/ccr3.1646
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Congenital diaphragmatic hernia in a case of Cat eye syndrome

Abstract: Key Clinical MessageOur findings extend the phenotypic spectrum of Cat eye syndrome, a disorder with wide clinical variability. The potentially life‐threatening complications of congenital diaphragmatic hernia should be considered in genetic counseling and prenatal diagnostic.

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Cited by 4 publications
(6 citation statements)
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“…However, although nearly 40% of CES patients develop this classical triad of symptoms, [ 8 ], this syndrome is associated with highly variable phenotypes, ranging from nearly normal to severe multiple malformations [ 9 ]. Rare clinical presentation such as anatomic insufficiency of the chest and spleen [ 10 ], hemifacial macrosomia [ 11 ], Müllerian agenesis [ 12 ], and congenital diaphragmatic hernia [ 13 ] have been reported. According to the location of the breakpoint, CES is divided into two types: type I CES does not involve the critical region of CES and the breakpoints of deletion and/or duplication are located in the proximal region of 22q11; Type II CES involves one breakpoint (asymmetric type, IIa) or two breakpoints (symmetric type, IIb) in the distal region, encompassing one or two copies of DiGeorge syndrome and CES critical region [ 14 ].…”
Section: Discussionmentioning
confidence: 99%
“…However, although nearly 40% of CES patients develop this classical triad of symptoms, [ 8 ], this syndrome is associated with highly variable phenotypes, ranging from nearly normal to severe multiple malformations [ 9 ]. Rare clinical presentation such as anatomic insufficiency of the chest and spleen [ 10 ], hemifacial macrosomia [ 11 ], Müllerian agenesis [ 12 ], and congenital diaphragmatic hernia [ 13 ] have been reported. According to the location of the breakpoint, CES is divided into two types: type I CES does not involve the critical region of CES and the breakpoints of deletion and/or duplication are located in the proximal region of 22q11; Type II CES involves one breakpoint (asymmetric type, IIa) or two breakpoints (symmetric type, IIb) in the distal region, encompassing one or two copies of DiGeorge syndrome and CES critical region [ 14 ].…”
Section: Discussionmentioning
confidence: 99%
“…С индром «котячого ока» (cat eye syndro me, CES, OMIM 115470), відомий також як синдром Шміда-Шраккаро (Schmid Fraccaro syndrome), -це рідкісний синдром множинних вроджених вад розвитку, який зустрічається з частотою 1:50 000-1:150 000 серед живонароджених [1,2]. Синдром був на званий «Cat Eye» через типову офтальмологіч ну патологію -вертикальну колобому рай дужної оболонки ока [3].…”
Section: вступunclassified
“…Також характерною ознакою CES є черепно лицеві дисморфії (гіпертелоризм, антимонго лоїдний розріз очних щілин, мікрогнатія, розщілина піднебіння, низько розташовані вушні мушлі, мікротія та стеноз зовнішнього слухового проходу). Серед інших вроджених вад розвитку синдрому притаманні вроджені вади серця (аномальний сплив легеневих вен та тетрада Фалло), вади нирок (гіпоплазія/аге незія нирки), а також внутрішньопечінкова або позапечінкова біліарна атрезія [1,2]. У літера турі повідомляється про гіперінсулінемію, важ кий імунодефіцит і серйозні когнітивні пору шення [4], вроджену діафрагмальну килу [11].…”
Section: вступunclassified
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“…3,6,7,[12][13][14] However, the association of CDH with genetic syndromes is rare, and most of the published data rely on case reports. [14][15][16][17][18][19][20][21][22] Genetic testing, both prenatal and postnatal, has evolved during the years. Previously used methods, such as karyotyping and different types of gene dose arrays, have recently been replaced by different massive parallel sequencing (MPS) approaches.…”
Section: Introductionmentioning
confidence: 99%