Paramyotonia Congenita: From 1 Different Sources
a rare disorder in which prolonged contraction of muscle fibres (see myotonia) is precipitated by cold and exercise. It is due to a mutation in the sodium-channel gene.
Congenital deformities, diseases, etc. are those which are either present at birth, or which, being transmitted direct from the parents, show themselves some time after birth.... congenital
See ADRENOGENITAL SYNDROME and GENETIC DISORDERS.... congenital adrenal hyperplasia
See developmental hip dysplasia.... hip, congenital dislocation of
(floppy baby syndrome) a former diagnosis for various conditions, present at birth, in which the baby’s muscles are weak and floppy (i.e. hypotonic). The term is becoming obsolete as more specific diagnoses are discovered to explain the cause of floppiness in babies.... amyotonia congenita
the congenital absence of skin on the scalp, usually in one or more small patches. It may result from an infection in the uterus or from a developmental abnormality.... aplasia cutis congenita
see transposition of the great vessels.... congenitally corrected transposition
a hereditary condition (inherited as an autosomal *recessive) causing severe visual loss in infants. The *fundus usually appears to be normal when examined with an *ophthalmoscope, but marked abnormalities are found on the ERG (see electroretinography), usually with extinguished wave pattern. [T. Leber (1840–1917), German ophthalmologist]... leber’s congenital amaurosis
a rare genetically determined skin disorder (see genodermatosis) characterized by thickening of the nails together with other ectodermal abnormalities.... pachyonychia congenita
(CDH) herniation of the fetal abdominal organs into the fetal chest, which occurs in one in 2000–5000 live births. This leads to pulmonary *hypoplasia, which is the main cause of the associated high neonatal mortality. The risk of pulmonary hypoplasia is substantially greater where there is herniation of the liver into the thoracic cavity. CDH is commonly associated with additional structural abnormalities (cardiac, neural tube defects, and exomphalos), and the risk of chromosomal abnormality (*aneuploidy) is 10–20%. Demonstration of a fluid-filled bowel at the level of the heart on ultrasound is diagnostic.... congenital diaphragmatic hernia
(CDH) an abnormality present at birth in which the head of the femur is displaced or easily displaceable from the acetabulum (socket) of the ilium, which is poorly developed; it frequently affects both hip joints. CDH occurs in about 1.5 per 1000 live births, being more common in first-born girls, in breech deliveries, and if there is a family history of the condition. The leg is shortened and has a reduced range of movement, and the skin creases may be asymmetrical. All babies are routinely screened for CDH at birth and at developmental check-ups by gentle manipulation of the hip causing it to be reduced and dislocated with a clunk (see Barlow manoeuvre; Ortolani manoeuvre). The diagnosis is confirmed by X-ray or ultrasound scan. Treatment is with a special harness holding the hip in the correct position. If this is unsuccessful, the hip is reduced under anaesthetic and held with a plaster of Paris cast or the defect is corrected by surgery. Successful treatment of an infant can give a normal hip; if the dislocation is not detected, the hip does not develop normally and osteoarthritis develops at a young age.... congenital dislocation of the hip
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