craniofacial abnormalities/edema

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Optic disc edema in fibrous dysplasia/McCune-Albright syndrome: prevalence, etiologies, and clinical implications

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Prijava / prijava

Background: Fibrous dysplasia (FD) is a rare disorder of expansile fibro-osseous lesions that may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Optic disc edema is a potentially serious

Craniofacial abnormalities and altered wnt and mmp mRNA expression in zebrafish embryos exposed to gasoline oxygenates ETBE and TAME.

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Prijava / prijava

Gasoline additives ethyl tert butyl ether (ETBE) and tertiary amyl methyl ether (TAME) are used world wide, but the consequence of developmental exposure to these hydrophilic chemicals is unknown for aquatic vertebrates. The effect of ETBE and TAME on zebrafish embryos was determined following OECD

Global gene expression analysis reveals pathway differences between teratogenic and non-teratogenic exposure concentrations of bisphenol A and 17β-estradiol in embryonic zebrafish.

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Prijava / prijava

Transient developmental exposure to 0.1μM bisphenol A (BPA) results in larval zebrafish hyperactivity and learning impairments in the adult, while exposure to 80μM BPA results in teratogenic responses, including craniofacial abnormalities and edema. The mode of action underlying these effects is

Fetal akinesia deformation sequence in a highly developed acardius twin.

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Prijava / prijava

We report a case of a holoacardius twin with extremely advanced development of the head, face, upper and lower limbs in the absence of all thoracic and upper abdominal viscera and associated with intestinal and anal atresia. The malformed fetus also had craniofacial abnormalities, hydrops, cystic

Tetraploid/diploid mosaicism with generalized aggressive periodontitis.

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Prijava / prijava

BACKGROUND Changes of chromosome number diploid to triploid or tetraploid states are rare in human pregnancies, where the main clinical features of tetraploidy are delayed growth and/or craniofacial abnormalities. The present report describes the oral features of tetraploid/diploid mosaicism.

Unsuccessful tracheal intubation in a patient with Kniest dysplasia undergoing repeated general anesthesia: a case report.

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Prijava / prijava

Kniest dysplasia is a type of chondrodysplasia characterized by severe craniofacial abnormalities including tracheomalacia, midface hypoplasia, and cleft palate.We previously described a 6-year-old girl with Kniest dysplasia, in whom glottic edema rapidly

Matrix metalloproteinase-13 is required for zebra fish (Danio rerio) development and is a target for glucocorticoids.

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Prijava / prijava

Matrix metalloproteinases (MMPs) are endopeptidases that degrade the proteins of the extracellular matrix (ECM). Expression and activity of the MMPs are essential for embryogenesis, where MMPs participate in the normal ECM remodeling that occurs during tissue morphogenesis and development. Studies

A modified frontal-nasal-orbital approach to midline lesions of the anterior cranial fossa and skull base: technical note with case illustrations.

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Prijava / prijava

The frontal-nasal-orbital craniotomy has been utilized for craniofacial abnormalities and resection of tumors involving the anterior skull base. We describe modifications of this technique to approach extra-axial and intradural midline lesions of the anterior fossa with or without involvement of the

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.

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Prijava / prijava

Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate,

New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.

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Prijava / prijava

Noonan syndrome (NS) is a genetic disorder characterized by short stature, a distinctive facial appearance, and heart defects. We recently discovered a novel NS gene, RIT1, which is a member of the RAS subfamily of small GTPases. NS patients with RIT1 mutations have a high incidence of

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

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Prijava / prijava

Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS-MAPK pathway. Germline mutations in BRAF cause CFC syndrome, which is characterized by heart defects, distinctive facial

Developmental neurotoxicity of pyrethroid insecticides in zebrafish embryos.

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Prijava / prijava

Pyrethroid insecticides are one of the most commonly used residential and agricultural insecticides. Based on the increased use of pyrethroids and recent studies showing that pregnant women and children are exposed to pyrethroids, there are concerns over the potential for developmental

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