Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same. Presentation
Eyes
Myopia is the most common eye problem in Marshall syndrome. Cataracts also occur more frequently and detached retina less frequently than in Stickler syndrome. Myopia also is the most common problem with the eyes in Stickler syndrome. In the latter syndrome, extreme myopia may lead to severe eye problems such as detached retina more frequently than in Marshall syndrome. Joints
The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. As an affected child gets older, they may experience pain and stiffness from overuse of a joint. Osteoarthritis of the large joints often develops during the third or fourth decade. The joint changes in Marshall syndrome are of the same type but to a lesser degree. There also may be changes in the bones that show up on X-ray but generally are not a problem. Orofacial Structure
The most severe problem associated with Stickler syndrome is Pierre Robin syndrome. This refers to a cleft palate resulting from a very small lower jaw. During early fetal life, the roof of the mouth is normally open and the sides of the palate have to come together to close.
Discomfort in the middle of the abdomen is more closely associated with spontaneous abortion; discomfort on a side of the abdomen is more closely associated with ectopic pregnancy. Risk factors for ectopic pregnancy or spontaneous abortion should also be considered.The physical examination includes assessing vital signs and performing an abdominal and pelvic examination. Signs of hemodynamic instability or peritonitis require emergent intervention. A pelvic examination may reveal non-obstetric causes of bleeding such as bleeding from the vagina or cervix. It may also show visible products of conception suggestive of an incomplete abortion.If the person is stable and a pelvic exam is unrevealing, transvaginal ultrasonography and/or serial measurement of hCG is generally recommended to assess fetal location and viability. Reviewed data from observational studies determined that ultrasound examination and hCG concentration could replace pelvic examination in the initial evaluation of early pregnancy bleeding. Transvaginal ultrasound is frequently used in the evaluation of bleeding in early pregnancy.Before 10 weeks gestation, a slower than normal increase in hCG suggests early pregnancy loss or ectopic pregnancy. By approximately 10 weeks, hCG plateaus and ultrasound is preferred to determine the location of the pregnancy (i.e., intrauterine or ectopic). In the presence of prior pelvic imaging, fetal heart tracing with Doppler sonography is sufficient to assess fetal viability beginning at 10–12 weeks of gestation. Bleeding associated with an intrauterine, viable pregnancy suggests threatened early pregnancy loss. Bleeding associated with an intrauterine, nonviable pregnancy suggests early pregnancy loss.