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“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.

In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.

Format: Articles

Subject: Publications, Disorders

“Maternal Stress Responses and Anxiety During Pregnancy: Effects on Fetal Heart Rate” (2000), by Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado

In 2000, Catherine Monk, William Fifer, Michael Myers, Richard Sloan, Leslie Trien, and Alicia Hurtado published “Maternal stress responses and anxiety during pregnancy: Effects on fetal heart rate,” in which the authors conducted a study on how pregnant women’s stress and anxiety affects the health of their fetuses. Previous studies had shown that stress and anxiety during pregnancy could cause fetal abnormalities.

Format: Articles

Subject: Publications, Disorders

Hermaphrodites and the Medical Invention of Sex (1998), by Alice Domurat Dreger

Hermaphrodites and the Medical Invention of Sex, by historian of science Alice Domurat Dreger, was published in 1998 by Harvard University Press. In the book, Dreger describes how many doctors and scientists treated human hermaphrodites from the late nineteenth century to the early twentieth century. She states that during this time period, many physicians and scientists struggled to determine the nature sex, and to support a classification of sex as male or female, many physicians and scientists resorted to viewing a person's gonads for identification of his or her sex.

Format: Articles

Subject: Publications, Theories, Disorders

William Thornton Mustard (1914-1987)

William Thornton Mustard was a surgeon in Canada during the twentieth century who developed surgical techniques to treat children who had congenital heart defects. Mustard has two surgeries named after him, both of which he helped to develop. The first of these surgeries replaces damaged or paralyzed muscles in individuals who have polio, a virus that can cause paralysis. The other technique corrects a condition called the transposition of the great arteries (TGA) that is noticed at birth.

Format: Articles

Subject: People, Disorders, Disorders

Cystic Fibrosis

Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.

Format: Articles

Subject: Disorders

Pre- and Post-natal Growth Deficiencies and Fetal Alcohol Syndrome

Maternal consumption of alcohol (ethanol) during pregnancy can inhibit prenatal growth, resulting in fetuses that are small for gestational age. Those prenatal growth deficiencies can have lasting consequences for early childhood development and are often reflected by low weight and stature. Those alcohol-induced pre- and post-natal growth deficiencies ("failure to thrive") are among the abnormal developmental criteria used to identify Fetal Alcohol Syndrome (FAS). FAS is characterized by minor facial abnormalities and deficiencies of the central nervous system as well.

Format: Articles

Subject: Disorders

Neonatal Jaundice

Neonatal jaundice is the yellow discoloration of the skin and eyes due to elevated bilirubin levels in the bloodstream of a newborn. Bilirubin is a byproduct of the breakdown of red blood cells. Jaundiced infants are unable to process bilirubin at a normal rate or they have an abnormally high amount of bilirubin in their bloodstream, resulting in a buildup of the yellow colored bilirubin. That build up is called hyperbilirubinemia and is the cause of jaundice.

Format: Articles

Subject: Disorders

Hydrocephalus During Infancy

Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death.

Format: Articles

Subject: Disorders

Dandy-Walker Syndrome

Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages.

Format: Articles

Subject: Disorders

Transposition of the Great Arteries (TGA)

Transposition of the great arteries or TGA is a potentially fatal congenital heart malformation where the pulmonary artery and the aorta are switched. The switch means that the aorta, which normally carries oxygenated blood, carries deoxygenated blood. There are two types of the malformation, d-TGA where no oxygen reaches the body and l-TGA where some oxygenated blood circulates. In the US, the Centers for Disease Control estimate that about 1,901 infants are born each year with TGA, or about one for every 2,000 births.

Format: Articles

Subject: Disorders

VACTERL Association

VACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. "VACTERL" is an acronym, each letter standing for one of the defects associated with the condition: V for vertebral anomalies, A for anal atresia, C for cardiovascular anomalies, T for tracheoesophageal fistula, E for esophageal atresia, R for renal anomalies, and L for limb defects.

Format: Articles

Subject: Disorders

Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.

Format: Articles

Subject: Disorders

Teratomas

Teratomas are embryonal tumors that normally arise from germ cells and are typically benign. They are defined as being composed either of tissues that are foreign to the area in which they form, or of tissues that derive from all three of the germ layers. Malignant teratomas are known as teratocarcinomas; these cancerous growths have played a pivotal role in the discovery of stem cells. "Teratoma" is Greek for "monstrous tumor"; these tumors were so named because they sometimes contain hair, teeth, bone, neurons, and even eyes.

Format: Articles

Subject: Processes, Disorders

The Effects of Thalidomide on Embryonic Development

Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. Some of these agents target the embryonic period's "window of susceptibility," three to eight weeks after a pregnant woman's last menstruation, when the highest degree of sensitivity to embryonic cell differentiation and organ formation occurs. The embryonic period or critical period is when most organ systems form, whereas the fetal period, week eight to birth, involves the growth and modeling of the organ systems.

Format: Articles

Subject: Processes, Disorders

Jeffrey Weinzweig's Experiments on In Utero Cleft Palate Repair in Goats (1999-2002)

Jeffrey Weinzweig and his team, in the US at the turn of the twenty-first century, performed a series of experiments on fetal goats to study the feasibility of repairing cleft palates on organisms still in the womb. Weinzweig , a plastic surgeon who specialized in cleft palate repair, and his team developed a method to cause cleft palates in fetal goats that are similar to clefts that occur in human fetuses. Using their goat congenital model, the team developed a method to repair a congenital cleft palate in utero, or in the womb.

Format: Articles

Subject: Experiments, Disorders

Truman William Brophy (1848–1928)

Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth.

Format: Articles

Subject: People, Disorders

Smith v. Cote (1986)

The case of Smith v. Cote (1986) answered two important questions concerning law and childbirth: does the State of New Hampshire recognize a cause of action for what is defined as wrongful birth, and does the State recognize a cause of action for what is classified as wrongful life? In the case of Smith v. Cote, damages were permitted for wrongful birth, but not for the action of wrongful life.

Format: Articles

Subject: Legal, Disorders