Dysmorphology

Patients with Prader-Willi syndrome exhibit failure to thrive and short stature initially, which converts to a tendency toward excessive eating, obesity, mild-to-moderate mental retardation, hypogonadism, and characteristic facial dysmorphology. 

Record results of evaluating function and development for a deflned list of endpoints, such as those shown in Table I. Common timepoints for this type of assessment are 2, 3, 4, or 5 dpf Typical 5 dpf morphology is shown in Fig. 4, and an example of dysmorphology in 5 dpf zebrafish larvae is shown in Fig. 5. 

Fig. 5. Example of dysmorphology induced by assay treatment. A range of body shape defects are shown, (a) Normal body shape, (b) Abnormal body shape moderate lordosis (ventral curvature), (c) Abnormal body shape severe lordosis. (Reprinted from Panzica-Kelly JM et al. (23), with permission from John Wiley and Sons.).

If dechorionated embryos are cultured, some background reduction in viability and dysmorphology may be avoided by using multiwall plates that are not tissue culture treated. Tissue culture treated plates are designed to promote cell adhesion in cell culture, but this may cause the early stage zebrafish embryo to adhere to the plate with detrimental consequences. 

We consider larvae nonviable if any of the following criteria are met no heartbeat, degradation of all or part of larva body, and/or growth retardation/dysmorphology of severity inconsistent with short-term survival. 

The Rat Whole Embryo Culture Assay Using the Dysmorphology Score System... 

Key words Rat whole embryo culture. Teratogenicity screening, Dysmorphology score system, Rat... 

The dysmorphology of the embryo is so severe that all morphology scores would be assigned 0.5-1 (see criteria below). 

A score of 2 is assigned when there is a series of somites that presents poor border definition, or are small and/or irregularly shaped, or there are combinations of somite dysmorphology (Fig. 5d, brackets). 

Zhang C et al (2010) The dysmorphology-based score system a morphological score system for assessing abnormalities in rodent embryos. Birth Defect Research (Part B) 83 1-8... 

It appears likely that the distinctive FAS facial dysmorphology is related to first-trimester alcohol exposure. The clinical data are derived from cases of FAS in populations of women reporting heavy alcohol consumption during this period. This is alarming since a majority of women who abuse alcohol may not know they are pregnant for the first 4 to 6 weeks of gestation. 

Shuey DL, Buckalew AR, WUke TS, Rogers JM, Abbott BD. Early events following maternal exposure to 5-fluorouracil lead to dysmorphology in cultured embryonic tissues. Teratology 1994 50(6) 379-86. 

Figure 16 Relationship between congenital malformation and functional deficit in isotretinoin-exposed children at 5 years of age. All of the children classified as mentally retarded (IQ of less than 71) have major malformations. Of those with marginal intellectual ability (full-scale IQ of 71-85), 40% have major structural malformations. Among all children with significant intellectual deficits, 38% have no major malformations. (Reproduced from Adams J and Lammer EJ (1991) Relationship between dysmorphology and neuropsychological function in children exposed to isotretinoin m utero. In Functional Neuroteratology of Short-Term Exposure to Drugs, pp. 159-170. Tokyo Teikyo University Press.)...

In a case report, a mother who applied DEET daily during her entire pregnancy gave birth to a child with craniofacial dysmorphology, mental retardation, and sensorimotor impairment. I20... 

The answer is a. (Murray, pp 812-828. Scriver, pp 3-45. Sack, pp 167-180. Wilson, pp 287-324.) Spina bifida is a defect of neural tube development that can be partially prevented by encouraging preconceptional folic acid supplementation in women desiring to become pregnant. Examination for subtle evidence of dysmorphology in children with major birth defects is necessary to rule out a syndrome. Syndromes often exhibit Mendelian or chromosomal inheritance. 

Baron Jr, S., N. Haykal-Coates, and H.A. Tilson. 1998. Gestational exposure to methylmercury alters the developmental pattern of trk-like irmnuno-reactivity in the rat brain and results in cortical dysmorphology. Dev. Brain Res. 109(1) 13-31. 

Hunter ES. 1998. Selenite prevents the dysmorphology and early phase cell cycle changes produced by arsenite in mouse embryos in culture [Abstract], Teratology 57(4/5) 215-216. 

At the present time, the best we can say is that about half the recognized fetal anomalies are caused either solely or partly by impact on the fetal environment. Here partly means the anomaly evidently involves some combination of genetics and environment. I m not concerned in this book with gross malformations of the fetus—the branch of biomedicine called teratology (dysmorphology)—but with changes in prenatal development due to impact on gene expression that can cause... 

Dysmorphology Abnormal physical development resulting from a genetic disorder. 

Thus, the cholinesterases can be used not only as stoichiometric bioscavengers, but also as therapeutic proteins that are capable of preventing both the acute presentation and chronic dysmorphology and immunosuppression of OP toxicity. 

Adams J, Lammer EJ (1991) Relationship between dysmorphology and neuropsychological function in children exposed to isotretinoin in utero. In T Fuji, G J Boer (eds) Functional neuroteratology of short-term exposure to drugs. Tokyo University Press, Tol o, 159-170... 

---