Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of “brittle bone disease.”
It is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. Clinically the disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures This disease (also called osteogenesis imperfecta congenita) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type II have been identified in both the COL1A1 and COL1A2 genes. (COL1A1 is the gene for type 1 alpha-1 chain of collagen (COL1A1) and is located in chromosome17q21.31-q22.05. COL1A2 is the gene for type 2 alpha-chain of collagen (COL1A2) which is in chromosome 7q22.1).
(Plural = vulneraries). A remedy used in healing or treating wounds. Any preparation, plant or drug used in the cure of wounds. For example, Native Americans used the herb echinacea as a vulnerary for burns, snakebites, arrow and other wounds. It was considered something of a panacea. “Vulnerary” comes from the Latin “vulnus” meaning “wound.” […]
The female external genital organs, including the labia, clitoris, and entrance to the vagina.
Pertaining to the vulva, the female external genitalia including the labia majora, labia minora, clitoris, the tiny glands called Bartolin’s glands, and the entrance to the vagina (the vestibule of the vagina).
- Vulvar pain, chronic
Also called essential vulvodynia (literally means “painful vulva”), pain in the vulva, the female external genitalia including the labia, clitoris, and entrance to the vagina. The pain usually is a chronic, diffuse, unremitting sensation of burning which may extend to the perineum, thigh or buttock and is often associated with discomfort in the urethra and […]
- Vulvar vestibulitis
Inflammation of small glands at the entrance to the vagina. Vulvar vestibulitis is the most common physical cause of painful intercourse in young women. In roughly half of cases, the condition appears due to a rare form of a gene (the interleukin-1 receptor antagonist gene) that regulates inflammation.