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Webbed Neck
A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. Signs and symptoms On babies, webbed neck may look like loose folds of skin on the neck. As the child grows, the skin may stretch out to look like there is little or no neck. Associated conditions It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel–Feil syndrome, or Diamond–Blackfan anemia Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cel ... References External links {{Congenital malformations and deformations of ear, face and neck Congenital disorders of eye, ear, face and neck ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noonan Syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence in the syndrome is often normal. Complications of NS can include leukemia. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves overactivation within the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. Confirmation may be achieved with genetic tes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Fold
Skin folds or skinfolds are areas of skin that are naturally folded. Many skin folds are distinct, heritable anatomical features, and may be used for identification of animal species, while others are non-specific and may be produced either by individual development of an organism or by arbitrary application of force to skin, either by the actions of the muscles of the body or by external force, e.g., gravity. Anatomical folds can also be found in other structures and tissues besides the skin, such as the ileocecal fold beneath the terminal ileum of the cecum. Skin folds are of interest for cosmetology, as some kinds may be considered aesthetically undesirable, and for medicine, because some of them are susceptible to inflammation and infection. Skin creases, skin folds and lines The skin creases of the human body are features of great anatomical, morphological, and surgical interest and important for the maintenance of the contour of each anatomic area. In the literature, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neck
The neck is the part of the body on many vertebrates that connects the head with the torso. The neck supports the weight of the head and protects the nerves that carry sensory and motor information from the brain down to the rest of the body. In addition, the neck is highly flexible and allows the head to turn and flex in all directions. The structures of the human neck are anatomically grouped into four compartments; vertebral, visceral and two vascular compartments. Within these compartments, the neck houses the cervical vertebrae and cervical part of the spinal cord, upper parts of the respiratory and digestive tracts, endocrine glands, nerves, arteries and veins. Muscles of the neck are described separately from the compartments. They bound the neck triangles. In anatomy, the neck is also called by its Latin names, or , although when used alone, in context, the word ''cervix'' more often refers to the uterine cervix, the neck of the uterus. Thus the adjective ''cervical'' ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Shoulder
The human shoulder is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. The shoulder joint, also known as the glenohumeral joint, is the major joint of the shoulder, but can more broadly include the acromioclavicular joint. In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula, and the head sits in the glenoid cavity. The shoulder is the group of structures in the region of the joint. The shoulder joint is the main joint of the shoulder. It is a ball and socket joint that allows the arm to rotate in a circular fashion or to hinge out and up away from the body. The joint capsule is a soft tissue envelope that encircles the glenohumeral joint and attaches to the scapula, humerus, and head of the biceps. It is lined by a thin, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turner Syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average. Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ann Plast Surg
''Annals of Plastic Surgery'' is a monthly peer-reviewed medical journal covering all aspects of plastic and reconstructive surgery. It is published by Lippincott Williams & Wilkins and the editor-in-chief is William C. Lineaweaver (Joseph M. Still Burn and Reconstructive Center, Brandon, Mississippi, United States). Abstracting and indexing The journal is abstracted and indexed in CAB Abstracts, Current Contents/Clinical Medicine, Embase, Index Medicus/MEDLINE/PubMed, Science Citation Index Expanded, and Scopus. According to the ''Journal Citation Reports'', the journal has a 2018 impact factor of 1.448. See also *List of medical journals Medical journals are published regularly to communicate new research to clinicians, medical scientists, and other healthcare workers. This article lists academic journals that focus on the practice of medicine or any medical specialty. Journa ... References External links * {{DEFAULTSORT:Annals of Plastic Surgery 1978 establishmen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klippel–Feil Syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. KFS is not always genetic and not always known about on the date of birth. The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. In 1919, in his Doctor of Philosophy thesis, André Feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine. Signs and symptoms KFS is associated with many other abnormalities o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Palate Craniofac
A cleft is an opening, fissure, or V-shaped indentation. Cleft may refer to: Linguistics * A cleft sentence, a type of grammatical construction Anatomy * Cleft lip and palate, a congenital deformity * A cleft chin, a dimple on the chin * The pudendal cleft, part of the female genitalia * Intergluteal cleft, the groove between the buttocks Places * Cleft Island (Antarctica) * Cleft Island (Victoria) * Cleft Ledge * Cleft Point * Cleft Peak * Cleft Rock Fiction * ''The Cleft'', a novel by 2007 Nobel prize laureate Doris Lessing * The Cleft, a location in Age of D'ni from the computer game ''Myst'' * Cleft, the Boy Chin Wonder, a character in ''The Fairly Odd Parents'' * Rainbow Cleft (Cirith Ninniach), a minor place in Beleriand, J. R. R. Tolkien's Middle-earth legendarium. See also * Cleave (other) Cleave may refer to: *Cleave (surname) *Cleave (fiber), a controlled break in optical fiber *RAF Cleave, was an airfield in the north of Cornwall, England, May 1939 - No ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diamond–Blackfan Anemia
Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. A variety of other congenital abnormalities may also occur in DBA. Signs and symptoms Diamond–Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
