by Amy Collier | Mar 23, 2015 | Diagnoses, Stories
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH Syndrome, MMIHS, or Berdon Syndrome) is a rare prenatal diagnosis involving a dilated urinary bladder which causes massive abdominal distension, microcolon and decreased or absent intestinal function....
by Amy Collier | Mar 1, 2015 | Diagnoses, Posterior Urethral Valves (PUV)
Posterior Urethral Valves (PUV) is a congenital defect affecting only male fetuses at a rate of about 1 in 8,000. It involves extra “flaps” of tissue on the urethra that obstruct the bladder. Effects can range from minimal to incompatible with life...
by Amy Collier | Mar 1, 2015 | Diagnoses
Achondrongenesis Type II is a form of skeletal dysplasia involving short limbs, a small chest with short ribs and underdevelopment of the lungs. It can also involve the failure of spinal and pelvic bones to properly form, and an enlarged abdomen. Facial malformation...
by JD | Feb 22, 2015 | Diagnoses
Chromosome 9, Trisomy Mosaic, is a rare chromosomal triplication where there are three copies of the chromsome 9 instead of the usual two copies in a percentage of cells in the body. Chromose 9 Trisomy Complete is a rare triplication of chromosome 9 is in every cell...
by JD | Feb 22, 2015 | Diagnoses, Oligohydraminos
Oligohydraminos is an abnormally low level of amniotic fluid. The development of the fetus’s lungs, digestives system, muscles and limbs depend on amniotic fluid, which allows it to “breath,” swallow, and move around as it grows. The effects of...
by Amy Collier | Feb 11, 2015 | arthrogryposis, Diagnoses
Arthrogryposis multiplex congenita (AMC), or arthrogryposis, involves congenital joint curvature in two or more areas of the body. The name translated from is Greek is literally “Hooking Joints.” It causes abnormal fibrosis of the muscle tissue, resulting...
