Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome

Balcí, Sevim; Altınok, Gülçin; Özaltın, Fatih; Aktaş, Dilek; Niron, E. A.; Onol, B

doi:10.1002/(sici)1097-0223(199909)19:9<856::aid-pd628>3.0.co;2-x

Cited by 26 publications

(10 citation statements)

References 13 publications

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“…Previous reports suggested that the contrasting association of oligohydramnios indicating renal agenesis and bilateral hyperechogenic lungs, as were present in our case, might be a sonographic marker of Fraser syndrome 10,29 . Indeed seven of the 16 reviewed cases had this sequence.…”

Section: Discussionsupporting

confidence: 57%

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Berg

Geipel

Germer

et al. 2001

Ultrasound in Obstet & Gyne

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Section: Discussionsupporting

confidence: 57%

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Berg

Geipel

Germer

et al. 2001

Ultrasound in Obstet & Gyne

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“…Daha önceki literatürlerde Fraser sendromla birlikte spesifik bir anomaliden bahsedilmemekteydi (12). Ancak son literatürlerde 4q21 FRAS1 geni mutasyonunun sorumlu olabileceği bildirilmiştir (7-13).…”

Section: Discussionunclassified

Fraser Syndrome: A Report of Two Cases

Kılınç¹,

Demir²,

Demir³

2015

Haseki

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“…Most importantly, fused pulmonary lobes and extravasated erythrocytes have also been reported in Fraser syndrome fetuses (28,29). Thus, Fras1 Ϫ/Ϫ mice are a useful model for the study of lung abnormalities in Fraser syndrome patients.…”

Section: Discussionmentioning

confidence: 99%

Basement Membrane Distortions Impair Lung Lobation and Capillary Organization in the Mouse Model for Fraser Syndrome

Petrou

Pavlakis

Dalezios

et al. 2005

Journal of Biological Chemistry

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Fras1 is a putative extracellular matrix protein that has been implicated in the structural adhesion of embryonic epidermis to dermis. Moreover, mutations in Fras1/FRAS1 have been associated with the mouse blebbed phenotype and the human rare genetic disorder Fraser syndrome, respectively. Here we report the mapping of Fras1 within the extracellular space and evaluate the effects of Fras1 deficiency on lung development in the mouse. Expression of Fras1 was detected in the mesothelial cells of the visceral pleura and in the conducting airway epithelia. Immunogold histochemistry identified Fras1 as a component of the extracellular matrix localized below the lamina densa of epithelial basement membranes in the embryonic lung. Embryos homozygous for a targeted mutation of Fras1 exhibited fused pulmonary lobes resulting from incomplete separation during development as well as a profound disarrangement of blood capillaries in the terminal air sacs. We demonstrate that loss of Fras1 causes alterations in the molecular composition of basement membranes, concomitant with local disruptions of epithelial-endothelial contacts and extravasation of erythrocytes into the embryonic respiratory lumen. Thus, our findings identify Fras1 as an important structural component of the sub-lamina densa of basement membranes required for lobar septation and the organization of blood capillaries in the peripheral lung.

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Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome

Cited by 26 publications

References 13 publications

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Fraser Syndrome: A Report of Two Cases

Basement Membrane Distortions Impair Lung Lobation and Capillary Organization in the Mouse Model for Fraser Syndrome

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