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Pycnodysostosis Glossary of Terms

The following are health and medical definitions of terms that appear in the Pycnodysostosis article.

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Baby teeth: See: Primary teeth.

Bone: Bone is the substance that forms the skeleton of the body. It is composed chiefly of calcium phosphate and calcium carbonate . It also serves as a storage area for calcium, playing a large role in calcium balance in the blood.
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Candidate gene: Any gene thought likely to cause a disease. The gene may be a candidate because it is located in a particular chromosome region suspected of being involved in the disease or its protein product may suggest that it could be the disease gene in question.
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Catalyst: A substance that speeds up a chemical reaction but is not consumed or altered in the process. Catalysts are of immense importance in chemistry and biology.
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Cavities: Holes in the two outer layers of a tooth called the enamel and the dentin. The enamel is the outermost white hard surface and the dentin is the yellow layer just beneath enamel. Both layers serve to protect the inner living tooth tissue called the pulp, where blood vessels and nerves reside. Small cavities may not cause pain, and may be unnoticed by the patient. Larger cavities can collect food, and the inner pulp of the affected tooth can become irritated by bacterial toxins, foods that are cold, hot, sour, or sweet - causing toothache. Also referred to as caries.

Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Condition: The term "condition" has a number of biomedical meanings including the following:

  1. An unhealthy state, such as in "this is a progressive condition."
  2. A state of fitness, such as "getting into condition."
  3. Something that is essential to the occurrence of something else; essentially a "precondition."
  4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Cysteine: An amino acid, one of the 20 building blocks of protein. Cysteine can be synthesized by the body and is not essential to the diet. Its key chemical feature is a thiol group that contains sulfur. This thiol group can combine with the thiol group of another cysteine to form a disulfide bridge, which helps structural proteins and enzymes maintain their configuration. Two cysteine molecules linked by a disulfide bridge make up the amino acid cystine. The symbol for cysteine is Cys.

Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

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Distal: The more (or most) distant of two (or more) things. For example, the distal end of the femur (the thigh bone) is the end down by the knee; the end more distant from the torso. The distal bile duct is the far end of the cystic duct, the end away from the gallbladder. And the distal lymph node in a chain of nodes is the most distant one. The opposite of distal is proximal.
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Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions , converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist.
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Essential: 1. Something that cannot be done without.
2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid.
3. Idiopathic. As in essential hypertension. "Essential" is a hallowed term meaning "We don't know the cause."

Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.

Family history: The family structure and relationships within the family, including information about diseases in family members.
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Feet: The plural of foot, both an anatomic structure and a unit of measure.
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Film: Slang shortening of X-ray film, an X-ray, a radiograph.

Fracture: A break in bone or cartilage. Although usually the result of trauma, a fracture can be caused by an acquired disease of bone such as osteoporosis or by abnormal formation of bone in a disease such as osteogenesis imperfecta ("brittle bone disease"). Fractures are classified according to their character and location as, for example, a greenstick fracture of the radius.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Growth hormone: A hormone made in the pituitary gland that stimulates the release of another hormone called somatomedin by the liver, thereby causing growth. Also known as somatotropin. Growth hormone is produced by the anterior pituitary gland, the front section of the gland, and is a polypeptide that consists of 191 amino acids . Growth hormone is given to children with pituitary dwarfism (short stature due to underfunction of the anterior pituitary) to help them grow. Excessive growth hormone production in children can lead to gigantism, and in adults it can lead to acromegaly.
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Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
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Infant: A child up to 2 years (24 months) of age.
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Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Jaw: The bones below the mouth (the mandible) and the bone above the mouth just above the mouth (the maxilla). The word jaw comes from the Anglo-Saxon ceowan meaning to chew.
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Linkage: The tendency for genes and other genetic markers to be inherited together because of their location near one another on the same chromosome .
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Linkage analysis: Study aimed at establishing linkage between genes. Today linkage analysis serves as a way of gene-hunting and genetic testing.
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Memory: 1. The ability to recover information about past events or knowledge. 2. The process of recovering information about past events or knowledge. 3. Cognitive reconstruction. The brain engages in a remarkable reshuffling process in an attempt to extract what is general and what is particular about each passing moment.
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Metabolism: The whole range of biochemical processes that occur within us (or any living organism). Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.

Nose: The external midline projection from the face.
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Offspring: The offspring are strictly speaking the progeny, or young, born to a person.
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Organic: 1. A chemical compound that contains carbon.
2. Related to an organ.
3. Grown or prepared without the use of chemicals or pesticides, as in organic food.
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Osteoporosis: Thinning of the bones with reduction in bone mass due to depletion of calcium and bone protein . Osteoporosis predisposes a person to fractures, which are often slow to heal and heal poorly. It is more common in older adults, particularly post-menopausal women; in patients on steroids; and in those who take steroidal drugs. Unchecked osteoporosis can lead to changes in posture , physical abnormality (particularly the form of hunched back known colloquially as " dowager's hump "), and decreased mobility.
See the entire definition of Osteoporosis

Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).
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Phalanges: The plural of phalanx. See: Phalanx.

Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Progressive: Increasing in scope or severity. Advancing. Going forward. In medicine, a disease that is progressive is going from bad to worse.
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Protease: An enzyme that can split a protein into peptides (from which the protein was originally created).
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Pycnodysostosis: An inherited disorder of the bone that causes short stature and abnormally dense brittle bones. Due to a defect in an enzyme: cathepsin K. The French artist Toulouse-Lautrec is thought to have pycnodysostosis. Also spelled pyknodysostosis with a "k".

Reabsorption: Absorbing again. For example, the kidney selectively reabsorbs substances such as glucose , proteins, and sodium which it had already secreted into the renal tubules. These reabsorbed substances return to the blood.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Resorption: The process of losing substance. Bone, when it is remodeled (reshaped), undergoes both new formation and resorption. The cell responsible for the resorption of bone is called an osteoclast .
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Scoliosis: Sideways ( lateral ) curving of the spine (the backbone ).
See the entire definition of Scoliosis

Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.


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Skull: The skull is a collection of bones which encase the brain and give form to the head and face. The bones of the skull include the following: the frontal, parietal, occipital, temporal, sphenoid, ethmoid, zygomatic, maxilla, nasal, vomer, palatine, inferior concha, and mandible.
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Spine: 1) The column of bone known as the vertebral column, which surrounds and protects the spinal cord. The spine can be categorized according to level of the body: i.e., cervical spine (neck), thoracic spine (upper and middle back), and lumbar spine (lower back). See also vertebral column. 2) Any short prominence of bone. The spines of the vertebrae protrude at the base of the back of the neck and in the middle of the back. These spines protect the spinal cord from injury from behind.

Stress: Forces from the outside world impinging on the individual. Stress is a normal part of life that can help us learn and grow. Conversely, stress can cause us significant problems.
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Tooth: The structures within the mouth that allow for biting and chewing. Teeth have different shapes, depending on their purpose. The sharp canine and frontal teeth allow for biting, while the flattened, thick molars in the back of the mouth provide grinding surfaces for masticating food. All teeth have essentially the same structure: a hard crown above the gum line, which is attached to two or four roots by a portion called the neck. The roots are covered with a very thin layer of bone, and keep the tooth embedded in the bones of the jaw. The exposed exterior of the tooth is covered with tough enamel. Under the enamel is a thick layer of dentin, and in the center is the pulp. Blood vessels and nerves are found within the pulp.
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Suggested Reading by Our Doctors
MedicineNet Doctors
  • Stress - Read about stress symptoms, signs, causes and treatment. Get information on stress management tips, the effects on the body and stress types (teen, job, PTSD).
  • Osteoporosis - Read about osteoporosis and osteopenia causes, symptoms, diagnosis, treatment (drugs), prevention (diet, weight-bearing exercise), risk factors (family history) and research.
  • Scoliosis - Scoliosis causes abnormal curvature of the spine. Get the facts on scoliosis types and symptoms. Treatment may involve exercises, surgery, physical therapy, yoga and massage.

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Pycnodysostosis

What is pregnancy planning and why is it important?

Having a baby is one of the most important events in a woman's life. Women considering pregnancy are encouraged to start planning for the pregnancy with their doctors early. This early planning process is called pregnancy planning. The goals of pregnancy planning are to create a healthy environment for the fetus and to prevent birth defects and other pregnancy related problems to the greatest extent possible. The issues addressed during pregnancy planning include nutrition, vitamins, body weight, exercise, avoidance of certain medications and alcohol, immunizations, and genetic counseling. Even though many women will have normal pregnancies without any planning, pregnancy planning improves the chances of a smooth pregnancy and a healthy baby. Unfortunately, over 40% of pregnancies in the United States are unplanned, and many more women who are anticipating conceiving do not seek prior medical consultation. Public ...

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