Zellweger Syndrome Zellweger Syndrome is a rare, autosomal recessive congenital syndrome of multiple abnormalities. Some of the principal characteristics are cerebral dysfunction, defective myelinization, craniofacial abnormalities, renal cysts, hepatomegaly, and biliary dysgenesis. Absence of liver and kidney peroxisomes is the underlying basic defect.
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Present at birth.
Referring to the cerebrum.
Difficult function or abnormal function.
Pertains to kidneys.
Any closed cavity or sac, normal or abnormal, lined by epithelium, and especially one that contains a liquid or semisolid material. (Dorland, 27th ed)
Enlargement of the liver.
Having to do with the gallbladder, bile ducts, or bile. The biliary system itself consists of the gallbladder and bile ducts and, of course, the bile.
Defective embryonic development.
The largest organ in the body. The liver carries out many important functions, such as making bile, changing food into energy, and cleaning alcohol and poisons from the blood.
One of the paired organs that excrete urine. The kidneys are bean-shaped organs (about 11 cm long, 5 cm wide, and 3 cm thick) lying on either side of the vertebral column, posterior to the peritoneum, about opposite the twelfth thoracic and first three lumbar vertebrae.
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A fertilized egg. Or the diploid cell that results from the joining of two haploid gametes (sperm and egg) during sexual reproduction, that will cleave to form an embryo.
Acute inflammatory disease with vesicles grouped in the course of cutaneous nerves, as in herpes zoster.
A commercial name for sertraline hydrochloride, an orally administered antidepressant of the selective serotonin reuptake inhibitor (SSRI) type. Sertraline is used medically mainly to treat the symptoms of depression.
An antibiotic approved for the treatment of chlamydia and bacterial infections of the skin and respiratory tract. It may also have activity against MAC, toxoplasmosis and cryptosporidiosis.
Pouches in the esophagus from increased pressure in and around the esophagus.
Zygote intrafallopian transfer (ZIFT)
Method of treating infertility by removing eggs from a woman's ovaries, fertilizing them in the laboratory with sperm from her partner or a donor, and inserting one or more of the fertilized eggs into one of her fallopian tubes.
A group of symptoms that occur when a tumor called a gastrinoma forms in the pancreas. The tumor, which may cause cancer, releases large amounts of the hormone gastrin. The gastrin causes too much acid in the duodenum, resulting in ulcers, bleeding, and perforation.
The general intellectual and cultural climate of taste characteristic of an era.
One of the paraphilias, characterized by marked distress over, or acting on, urges to indulge in sexual activity that involves animals.
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