Health Illustrated Encyclopedia - Osteogenesis imperfecta Osteogenesisimperfecta Definition Osteogenesisimperfecta is a condition causing extremely fragile bones. Alternative Names Brittle bone disease Causes Osteogenesisimperfecta (OI) is a congenital disease, meaning it is present at birth. It is caused by a genetic defect that affects type 1 collagen…
Genetics and Dysmorphology
…can be evaluated for connective tissue disorders, such as Marfan syndrome and Ehlers-Danlos syndrome. Other reasons for referral include osteogenesisimperfecta, chromosomal disorders, autism and neurofibromatosis. Genetic counseling and carrier testing are available for persons with family histories… related searches:genetics
Pedi-Enyclopedia: NO
…Oppositional defiant disorder * Optic glioma * Oral thrush * Orbital cellulites * Osgood-schlatter disease * Osler-Weber-Rendu syndrome * Osteogenesisimperfecta * Osteomyelitis * Osteosarcoma Back | Pediatric Encyclopedia
Health Illustrated Encyclopedia - Child abuse - physical
…unexplained neurological symptoms, headaches, or loss of consciousness. The following medical conditions have symptoms similar to physical abuse: * Osteogenesisimperfecta - almost all children with this condition have an abnormal (blue) coloring of the whites of the eyes. These children may have spontaneous fractures…
Enciclopedia Ilustrada de Salud - Osteogénesis imperfecta
Osteogénesis imperfecta Definición Es una afección que ocasiona huesos extremadamente frágiles. Nombres alternativos Enfermedad de los huesos frágiles; Osteogenia imperfecta Causas, incidencia y factores de riesgo La osteogénesis imperfecta es una enfermedad congénita, lo que quiere decir…
Health Illustrated Encyclopedia - Craniotabes
…osteogenesisimperfecta (brittle bones). Symptoms * soft areas of the skull, especially along the suture line, which pop in and out like a squeezed Ping-Pong ball * bones may feel soft and thin along the suture lines and flex very easily Exams and Tests No testing is done unless osteogenesisimperfecta…
Enciclopedia Ilustrada de Salud - Craneotabes
…Pong). El craneotabes es un hallazgo inofensivo en los neonatos, a menos que esté asociado con otros problemas como raquitismo y osteogénesis imperfecta (huesos frágiles). Síntomas * Áreas blandas del cráneo, especialmente a lo largo de la línea de sutura, que se hunden y vuelven a su lugar…
Health Illustrated Encyclopedia - Hearing loss
…- 12 weeks is cause for concern. Preventing hearing loss is more effective than treating it after "the damage is done." Causes Genetic: * Osteogenesisimperfecta * Leopard syndrome (multiple lentigines) * Otosclerosis * Robinson type ectodermal dysplasia * Cockayne syndrome * Bjorn pili torti and deafness…
Health Illustrated Encyclopedia - Hyperelastic skin
…more than is normally possible). Other diseases that may cause easily stretchable skin include Marfan syndrome, pseudoxanthoma elasticum, osteogenesisimperfecta, cutis laxa, cutaneous T-cell lymphoma, and sun-related changes of older skin. Home Care People with hyperelastic skin are more likely than…
Health Illustrated Encyclopedia - Fontanelles - excessively large
…Intrauterine growth retardation (IUGR) * Prematurity * Hydrocephalus * Down syndrome * Achondroplasia Rarer causes: * Hypothyroidism * Rickets * Osteogenesisimperfecta * Congenital rubella (seldom seen since immunization begun with MMR -- measles, mumps, rubella -- vaccine) * Apert syndrome * Cleidocranial…
