Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
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 is often normal. Complications of NS can include leukemia.
Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.
CHARGE syndrome is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009, it was the leading cause of congenital deafblindness in the US.
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding. It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations.
Widukind Lenz was a distinguished German pediatrician, medical geneticist and dysmorphologist who was among the first to recognize the thalidomide syndrome in 1961 and alert the world to the dangers of limb and other malformations due to the mother's exposure to this drug during pregnancy.
Ogden Carr Bruton was a pediatrician and chief of pediatrics at Walter Reed Army Hospital, where he organized the first pediatric residency at this hospital. He made important advances in the field of immunology as an immunologist. The condition he discovered is sometimes referenced by his name: "Bruton-type agammaglobulinemia". The gene associated with this defect is also named after him: Btk, abbreviation for Bruton's tyrosine kinase.
David Weyhe Smith was an American pediatrician and dysmorphologist, best known for his pioneering book Recognizable Patterns of Human Malformation and for describing fetal alcohol syndrome.
Renata Laxova was a Czech American pediatric geneticist and a professor of genetics at the Departments of Pediatrics and Medical Genetics, Waisman Center, University of Wisconsin–Madison. She was the discoverer of the Neu-Laxová syndrome, a rare congenital abnormality involving multiple organs, with autosomal recessive inheritance.
Patricia Ann Baird, is a British medical geneticist active in Canada. Her research has specialized on the relationship between medical technology and ethics.
Lotte Strauss was a German-American pathologist.
Maria Iandolo New(1928-2024) was a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City. She is an expert in congenital adrenal hyperplasia (CAH), a genetic condition affecting the adrenal gland that can affect sexual development.
Cornelia Catharina de Lange was a Dutch pediatrician and neuropathologist who along with Winfried Brachmann first described the genetic disorder named after her, the Cornelia de Lange syndrome.
Nadia Awni Sakati is a Syrian-Saudi pediatrician. Born on 23 May 1938 in Damascus, Syria, Sakati has contributed to genetics medicine.
John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.
Wladimir Wertelecki is a pediatrician and medical geneticist. In 1974, he established one of the first free-standing Departments of Medical Genetics at the new South Alabama University College of Medicine in Mobile, Alabama, U.S.A. Following his retirement as Chairman and Emeritus Professor of Medical Genetics, Pediatrics, and Pathology, he continued his investigations into the prevention of developmental anomalies as a Project Scientist at the Department of Pediatrics, University of California San Diego. Since 1996, his research has focused mainly on alcohol and the impact of ionizing radiation on congenital anomalies. He is the author over 135 scientific reports.
Catherine Annie Neill was a British pediatric cardiologist who spent the majority of her career at the Johns Hopkins Children's Center in Baltimore, where she worked alongside Helen B. Taussig. Her primary interest was congenital heart defects; she discovered one type of defect, scimitar syndrome, in 1960.
Frances Estelle Reed Simons is a Canadian physician and researcher. She was named to the Canadian Medical Hall of Fame in 2017.
Melissa A. Parisi is an American geneticist and physician. She is chief of the Intellectual and Developmental Disabilities Branch at the National Institute of Child Health & Human Development.
Allison Audrey Eddy is a Canadian nephrologist. She was the inaugural Hudson Family Hospital Chair in Pediatric Medicine at British Columbia Children's Hospital and a clinician-scientist at the British Columbia Children's Hospital.
