- Key People:
- Isidore Geoffroy Saint-Hilaire
Malformation
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What does 'malformation' mean in biology?
In biology, a malformation refers to an irregular or abnormal structural development in plants and animals. These abnormalities, also known as anomalies, can range from mild to severe, with the most extreme cases historically referred to as monsters.
Malformations stem from deviations in the normal course of development, often during early embryonic stages. These deviations can arise from various factors, including mutant genes, environmental conditions, infections, drugs, or interactions between these causes. Teratology, a branch of morphology or embryology, focuses on studying these structural deviations from the norm to understand both their causes and normal development.
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How does a malformation differ from a normal biological structure?
A malformation in biology is an irregular or abnormal structural development in plants and animals. These abnormalities can range from minor anomalies to severe defects and can arise during embryogenesis, specifically during blastogenesis (the first 28 days) and organogenesis (the subsequent period of organ formation). Malformations contrast with normal biological structures because they deviate from the typical developmental pathway due to genetic, environmental, or interactive factors that reduce the rate of development. Teratology studies these structural deviations to understand normal development.
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What are some common examples of malformations in living organisms?
A malformation in biology is an irregular or abnormal structural development in plants and animals, often originating in early embryonic stages.
Examples of malformations include:
* Neural tube defects These congenital defects of the brain and spinal cord occur when the neural tube doesn't close properly during embryonic life, leading to conditions like spina bifida.
* Limb defects These include missing or malformed limbs, such as shortened limbs (phocomelia), extra digits (polydactyly), or missing digits (hypodactyly).
* Cardiovascular malformations Congenital heart defects, such as ventricular septal defect (a hole between the heart's lower chambers), can disrupt normal blood flow.
* Brain malformations These can range from absence of the brain (anencephaly) to an abnormally small brain (microcephaly) or enlargement of the brain due to fluid accumulation (hydrocephaly).
* Doubling of body parts In rare cases, malformations can result in Siamese twins, where twins are joined by a tissue bridge, or other forms of partial or complete doubling of body structures.6 Britannica SourcesCreated from Britannica articles using AI. AI can make mistakes, so verify using Britannica articles. -
What causes malformations to occur during development?
Malformations during development, studied in teratology, arise from deviations in the normal developmental course, often in early embryonic stages. These deviations can stem from various factors, including abnormal genes, environmental conditions, infections, and drug exposure, frequently resulting from interactions between these causes.
Hereditary factors, such as gene mutations (dominant, recessive, or sex-linked) and unequal chromosome distribution, play a significant role. Environmental factors, like irradiation and chemical agents (alcohol, drugs), can also be teratogenic, especially during the first trimester. Exposure to teratogens can lead to prenatal growth restriction, functional abnormalities, structural abnormalities, miscarriage, or fetal death. Most congenital disorders occur sporadically, sometimes linked to maternal age or inherited mitochondrial DNA mutations.
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How can genetic factors lead to biological malformations?
Genetic factors can indeed lead to biological malformations through various mechanisms.
- Gene mutations Alterations in the DNA sequence can result in defective protein synthesis, disrupting normal development.
- Chromosomal abnormalities An abnormal number or structure of chromosomes can cause malformations. Examples include Down syndrome (trisomy 21) and Turner syndrome (XO).
- Inheritance patterns Genetic disorders can be inherited in dominant, recessive, or sex-linked manners. Dominant disorders require only one copy of a mutated gene, while recessive disorders require two copies.
- Genomic imprinting defects Parental defects in gene expression regulation can disrupt embryonic development.
These genetic factors can interfere with the normal processes of morphogenesis, the shaping of an organism during development, leading to congenital disorders.
8 Britannica Sources- prenatal development: Teratology
- biological development: Morphogenesis by the self-assembly of units
- human disease: Factors relating to genetic injury
- human genetic disease: Calculating risks of known carriers
- morphogenesis
- congenital disorder: Causes
- genetic counseling: Pregnancy
- chromosomal disorder
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How do scientists and doctors identify and study malformations in biology?
Scientists and doctors employ various methods to identify and study malformations, also known as abnormalities or anomalies, in biology. The science that studies these structural deviations is called teratology.
To diagnose basic defects, they use chemical, radiological, histopathologic, and electrodiagnostic procedures. Cytogenetic analyses investigate chromosomes, while molecular assays investigate genes and DNA. There are also genetic tests for blood and blood typing and antibody determination.
Prenatal screening is common in cases with a family history of inherited disease, advanced maternal age, or a previous child with chromosomal abnormality. Common prenatal tests screen for alpha-fetoprotein (AFP) in maternal serum. Elevated AFP levels may indicate neural tube defects in the fetus. Other methods include ultrasound and amniocentesis, which analyzes amniotic fluid for AFP presence and fetal cells for chromosomal abnormalities. FISH is used to examine specific DNA sequences and the number or structure of chromosomes.
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Malformation, in biology, irregular or abnormal structural development. Malformations occur in both plants and animals and have a number of causes.
The processes of development are regulated in such a way that few malformed organisms are found. Those that do appear may, when properly studied, shed light on normal development. The science of teratology—a branch of morphology or embryology—is concerned with the study of these structural deviations from the normal, whether in animals or plants.
In general, abnormalities can be traced to deviations from the normal course of development, often in very early embryonic stages. Such deviations may be caused by abnormal (mutant) genes, by environmental conditions, by infection, by drugs, and, perhaps most frequently, by interactions between these sets of causes. A general interpretation has been that one factor in many cases is reduction of the rate of development, the kind and degree of deformity depending upon the stage at which the retardation occurs. This interpretation is supported by the results of descriptive studies of anomalies, and especially by evidence from experimental teratology.
Plant malformations
Monstrosities, freaks, and other malformations have interested botanists for many years. There are numerous categories of such growth abnormalities in plants, and these are often related only loosely or not at all to one another.
Exaggerated growth
Sometimes divergence from the normal represents merely a quantitative change, which is evidenced by a harmonious but exaggerated manifestation of the normal developmental processes. This is well illustrated in the so-called bakanae, or foolish seedling disease, of rice. The bakanae disease is caused by the fungus Gibberella fujikuroi. Diseased plants are often conspicuous in a field because of their extreme height and pale, spindly appearance. This exaggerated growth response was found to be due to specific substances, known as gibberellins, which were produced by the fungus. Evidence is now available to indicate that gibberellins, also produced by higher plant species, participate directly as an essential growth-regulating system in all higher plant species. The gibberellins of either fungal or higher plant origin stimulate the normal development of certain genetic dwarfs of maize and peas, which cannot themselves produce the gibberellins in amounts sufficient for their normal development.
A common deformity of tobacco, called frenching, occurs in most tobacco-growing regions of the world. The advanced state of this condition is characterized by a cessation of terminal bud and stem growth. When dominance of the stem tips is lost, the buds in the axils of the leaves develop, and unusually large numbers of leaves (as many as 300) appear on a plant. The leaves are characteristically sword- or string-shaped because of the failure of the leaf blades to develop. Such plants have the appearance of a rosette. Although the cause of frenching has not yet been unequivocally established, it is thought to be due to a toxic substance produced by the nonpathogenic soil bacterium Bacillus cereus.
Alteration of floral parts
Under the stimulus of pathogenic organisms of the most diverse kinds, the sepals, petals, stamens, or pistils of a flower may be transformed into structures that are very different in appearance from those found normally. Certain viruses can cause enlargement of the leaflike flower parts (sepals) surrounding the base of a blossom in plants of the nightshade family. The tomato big-bud virus appears to affect the sepals of the tomato flower rather specifically. These structures enlarge greatly under the influence of the virus and fuse to form huge bladderlike structures that may be 10 times or more the normal size. In the Madagascar periwinkle (Vinca rosea), however, viruses of this type bring about a green colouring in the petals, stamens, and styles; normally the petals are pink and the stamens and styles whitish. There is in this instance a retrograde development of floral parts into foliage leaves. (Findings such as these are of interest to the morphologist because they support the contention that the flower should be regarded as a modified leafy branch.)
Translocation of organs
Plant organs may arise in unusual places as a result of the infection by certain types of pathogenic agents. The carrot-yellows virus, for example, stimulates production of aerial tubers in the axils of the leaves of potato plants. Large numbers of adventitious roots (arising in abnormal places) appear on the stems of tomato plants infected with the bacteria Pseudomonas solanacearum and Agrobacterium tumefaciens as well as the Fusarium wilt fungus and the cranberry false blossom virus.
An extreme example of adventitious shoot formation is found in Begonia phyllomaniaca after shock. In this instance, small plantlets develop spontaneously in incredible numbers from the superficial cell layers of the leaf blades, petioles, and stems. The adventitious shoots do not arise from preformed buds but develop from cells at the base of hairs and especially from certain glands present in great numbers in young stems and leaves of this species. Although these plantlets develop a vascular system of their own, the vast majority never succeed in connecting that system with the vascular system of the host. They must therefore be regarded not as branches but rather as independent organisms.

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