Glossary
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Amniocentesis
- A procedure for obtaining a sample of amniotic fluid from the sac in the uterus of a pregnant woman by inserting a hollow needle through the abdominal wall. This is used for the diagnosis of certain genetic defects.
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Astigmatism
- Visual defect caused by abnormal curvature of the cornea that results in a blurry image.
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Branchial, or pharyngeal, or visceral arches
- Tissues that forms the crucial bones, skin, nerves, muscle, and other features of the head and neck area. The tissues grow in pairs on each side of the head and meet in the centerline of the face and neck.
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Choanae
- Funnel-shaped, posterior openings of the nose, just above and behind the hard palate.
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Chorionic villus sampling (CVS)
- A procedure for taking a small piece of placental tissue (chorionic villi) from the uterus in early pregnancy to check for the presence of genetic defects in the fetus. CVS can be performed through the cervix or the abdomen.
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Collagen
- Protein that forms the connective tissue of the body and gives tissue its structure.
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Coloboma
- Slit or fissure in any part of the eye or eyelid caused by failure to form properly.
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Congenital
- A condition that exists at birth.
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Cranial sutures
- Seams that separate the bones of the head. As a child develops, the sutures normally separate to accommodate the enlarging brain, with bone filling in the gaps.
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Endothelial cells
- Cells that comprise the inner lining of blood and lymph vessels and other bodily structures.
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Excision
- Removal of tissue by a surgical procedure.
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Exophthalmos
- Bulging eye(s) caused by swollen soft tissue.
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Exorbitism
- Bulging eye(s) caused by eye socket(s) that are too small or too shallow.
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Genioplasty
- Procedure to alter the appearance/position of the chin.
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Glaucoma
- Disease marked by increased pressure in the eyeball that can result in gradual loss of vision.
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Glossoptosis
- Condition in which the tongue is pushed toward the back of the throat, where it can block the airway.
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Head sutures
- The seams that separate the bones of the head. As a child develops, the sutures are normally pushed apart to accommodate the enlarging brain, with bone filling in the gaps.
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Hematoma
- Blood in the tissues from a leak in the blood vessels.
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High-resolution ultrasonography
- Technology using sound waves that enables doctors to obtain detailed, two-dimensional images of a developing fetus.
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Hydrocephalus
- Abnormal accumulation of fluid that leads to enlargement of the head and causes pressure on the brain.
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Hypoparathyroidism
- Lack of sufficient parathyroid hormone in the body, creating an imbalance of calcium that can lead to muscle problems including spasms, fatigue, and, in some cases, seizures.
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Malocclusion
- Abnormality in the way in which the teeth come together.
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Mandible
- Lower jaw.
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Mandibular hypoplasia
- Underdevelopment of the lower jaw.
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Maxilla
- Upper jaw.
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Micrognathia
- Abnormally small jaw, especially the lower jaw.
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Microphthalmia
- Abnormally small eye.
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Microtia
Microtia and atresia. Children with microtia and atresia do not hear well and have ears that look abnormal.In children with microtia, the outer, visible portion of the ear (the pinna or auricle) is underdeveloped. The result can be an ear that looks otherwise normal, but is too small. There can be a miniature ear that is folded and joined to the side of the head, with bits of skin attached where the ears would normally be, or skin tags on the cheek.In atresia, by contrast, the ear canal, which carries sounds from the outside to the inner ear, is either closed off or absent. Microtia and atresia usually occur together. Typically they are part of hemifacial syndrome.
Learn more about Microtia in our Q&A about First and Second Pharyngeal Arch Syndromes
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Mitral Valve Prolapse
- Heart problem that occurs when the mitral valve closes and protrudes into the adjacent heart chamber. This sometimes occurs in children with Stickler syndrome.
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Myringostomy
- Insertion of a ventilation tube through the eardrum after removal of fluid from the middle ear.
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Orbital dystopia
- One eye is lower than the other.
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Otitis media
- Infection of the middle ear.
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Otolaryngologist
- Physician who specializes in disorders of the ear, nose, and throat.
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Pharyngeal flap
- Procedure performed in about 10 -15 percent of children with a cleft palate. It corrects nasal speech, and is usually done when a child is four or five years old.
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Pinna
- Outer, visible portion of the ear; also called auricle.
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Ptosis
- Sagging or drooping of a part of the body, for example, blepharoptosis means drooping of the upper eyelid.
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Pyogenic granuloma
- Small growth filled with tiny blood vessels that can bleed easily.
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Scoliosis
- Abnormal curvature of the spine.
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Septum
- Dividing membrane of cartilage between the nostrils. A deviated (or crooked) septum may cause difficulty with breathing or obstruct the sinuses.
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Soft palate
- Tissue at the back of the mouth that moves during speech and separates the mouth from the top of the nasal cavity.
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Sonogram
- Detailed image of a fetus taken by high-resolution ultrasonic equipment.
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Strabismus
- Muscular condition in which the eyes do not move in unison.
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Strip craniectomy
- Corrective surgical procedure performed on children with single-suture craniosynostosis. It involves removing a plate of bone at the top of the head to enable the head to develop more normally.
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Sudden Infant Death Syndrome (SIDS)
- Death of an apparently healthy infant, usually before one year of age and usually during sleep. The cause is unknown.
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Symphalangism
- Fusion of the finger and/or toe joints.
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Syndactyly
- Webbing of the fingers and/or toes.
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Syndrome
- Group of signs or symptoms in different parts of the body that occur together and make up a particular pattern or condition.
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Torticollis
- Contraction or tightness of muscles in the neck that causes the head to be drawn to one side and rotated so the chin points to the other side.
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Tracheostomy
- The surgical creation of an opening in the windpipe through the neck to allow the passage of air.
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Visceral arches
- See Pharyngeal arches.
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