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The diagnosis of constriction ring syndrome can be confirmed with an ultrasonography. The clinical manifestations can be extremely variable. It could be a single or multiple manifestation. This can be confirmed at the end of the first trimester or at the beginning of the second trimester. But not every patient will be diagnosed at that moment, most will get this diagnosis at birth.
The differential diagnosis includes;
- Symbrachydactyly
- Chorionic villus sampling
- Congenital amputations
- Hypoplasias of hand, digit, thumb
- Adams-Oliver syndrome
- ADAM complex
ADAM Complex; CRS is sometimes mislabeled as ADAM complex. ADAM is an abbreviation for Amniotic Deformity, Adhesions Mutilations. CRS is the malformation due to a constriction ring around mostly a limb. ADAM-complex is the association of limb defects (caused by constriction rings) and certain craniofacial clefts
“Adams-Oliver syndrome is often mislabeled as CRS and consists of cutis aplasia of the scalp in which a longitudinal defect can vary in size and can often be associated with full-thickness skullcap loss. The distal digital or toe hypoplasia-aplasia is often confused with CRS. Constriction rings with or without edema are not present. The digital or toe hypoplasia-aplasia usually contains diminutive nails or nail folds”.
Angioid streaks, also called Knapp streaks or Knapp striae are small breaks in Bruch's membrane, an elastic tissue containing membrane of the retina that may become calcified and crack.
A labyrinthine fistula is an abnormal opening in the bony capsule of the inner ear, resulting in leakage of the perilymph from the Cochlea into the middle ear. This includes specifically a perilymph fistula (PLF), an abnormal connection between the fluid of the inner ear and the air-filled middle ear. This connection is caused by a rupture of the round window that separate the inner and middle ear. Another type of l.f. is a semicircular canal dehiscence, which allows the inner ear to be influenced by the intracranial pressure directly.
Breath sounds on the side of the rupture may be diminished, respiratory distress may be present, and the chest or abdomen may be painful. Orthopnea, dyspnea which occurs when lying flat, may also occur, and coughing is another sign. In people with herniation of abdominal organs, signs of intestinal blockage or sepsis in the abdomen may be present. Bowel sounds may be heard in the chest, and shoulder or epigastric pain may be present. When the injury is not noticed right away, the main symptoms are those that indicate bowel obstruction.
Angioid streaks are often associated with pseudoxanthoma elasticum (PXE), but have been found to occur in conjunction with other disorders, including Paget's disease, Sickle cell disease and Ehlers-Danlos Syndrome. These streaks can have a negative impact on vision due to choroidal neovascularization or choroidal rupture. Also, vision can be impaired if the streaks progress to the fovea and damage the retinal pigment epithelium.
PLF is a cause of dizziness, imbalance, and hearing loss—any or all of these symptoms can exist. Vertigo (an illusion of motion) is not common in this disorder. The most common cause of this fistula is head or ear trauma. Rapid increases of intracranial pressure can also result in a PLF. Rarely, these fistulas can be congenital, leading to progressive hearing loss and vertigo in childhood. It has also been a complication of a stapedectomy.
Symptoms of a rupture may be initially quite subtle. An old cesarean scar may undergo dehiscence; but with further labor the woman may experience abdominal pain and vaginal bleeding, though these signs are difficult to distinguish from normal labor. Often a deterioration of the fetal heart rate is a leading sign, but the cardinal sign of uterine rupture is loss of fetal station on manual vaginal exam. Intra-abdominal bleeding can lead to hypovolemic shock and death. Although the associated maternal mortality is now less than one percent, the fetal mortality rate is between two and six percent when rupture occurs in the hospital.
In pregnancy uterine rupture may cause a viable abdominal pregnancy. This is what accounts for most abdominal pregnancy births.
- Abdominal pain and tenderness. The pain may not be severe; it may occur suddenly at the peak of a contraction. The woman may describe a feeling that something "gave way" or "ripped."
- Chest pain, pain between the scapulae, or pain on inspiration—Pain occurs because of the irritation of blood below the woman's diaphragm
- Hypovolemic shock caused by haemorrhage— Falling blood pressure, tachycardia, tachypnea, pallor, cool and clammy skin, and anxiety. The fall in blood pressure is often a late sign of haemorrhage
- Signs associated with fetal oxygenation, such as late deceleration, reduced variability, tachycardia, and bradycardia
- Absent fetal heart sounds with a large disruption of the placenta; absent fetal heart activity by ultrasound examination
- Cessation of uterine contractions
- Palpation of the fetus outside the uterus (usually occurs only with a large, complete rupture). The fetus is likely to be dead at this point.
- Signs of an abdominal pregnancy
- Post-term pregnancy
The constriction of appendages by amniotic bands may result in:
1. Constriction rings around the digits, arms and legs
2. Swelling of the extremities distal to the point of constriction (congenital lymphedema)
3. Amputation of digits, arms and legs (congenital amputation)
A strong relationship between ABS and clubfoot (also called "talipes") exists. A 31.5% of associated clubfoot deformity and ABS can be correlated with 20% occurring bilaterally. Other abnormalities found with ABS include: clubhands, cleft lip, and/or cleft palate, and hemangioma.
Decreased fetal movement could be a sign of a serious problem which may include ABS. It is rare but possible for the membrane to become wrapped around the placenta or the neck of the baby in the womb causing strangulation and death.
Diaphragmatic rupture (also called diaphragmatic injury or tear) is a tear of the diaphragm, the muscle across the bottom of the ribcage that plays a crucial role in respiration. Most commonly, acquired diaphragmatic tears result from physical trauma. Diaphragmatic rupture can result from blunt or penetrating trauma and occurs in about 5% of cases of severe blunt trauma to the trunk.
Diagnostic techniques include X-ray, computed tomography, and surgical techniques such as laparotomy. Diagnosis is often difficult because signs may not show up on X-ray, or signs that do show up appear similar to other conditions. Signs and symptoms included chest and abdominal pain, difficulty breathing, and decreased lung sounds. When a tear is discovered, surgery is needed to repair it.
Injuries to the diaphragm are usually accompanied by other injuries, and they indicate that more severe injury may have occurred. The outcome often depends more on associated injuries than on the diaphragmatic injury itself. Since the pressure is higher in the abdominal cavity than the chest cavity, rupture of the diaphragm is almost always associated with herniation of abdominal organs into the chest cavity, which is called a traumatic diaphragmatic hernia. This herniation can interfere with breathing, and blood supply can be cut off to organs that herniate through the diaphragm, damaging them.
Optic-disc edema will be graded based on the Frisén Scale as below:
Stage 0 - Normal Optic-disc
Blurring of nasal, superior and inferior poles in inverse proportion to disc diameter. Radial nerve fiber layer (NFL) without NFL tortuosity. Rare obscuration of a major blood vessel, usually on the upper pole.
Stage 1 - Very Early Optic-disc Edema
Obscuration of the nasal border of the disc. No elevation of the disc borders. Disruption of the normal radial NFL arrangement with grayish opacity accentuating nerve fiber layer bundles. Normal temporal disc margin. Subtle grayish halo with temporal gap (best seen with indirect ophthalmoscopy). Concentric or radial retrochoroidal folds.
Stage 2 - Early Optic-disc Edema
Obscuration of all borders. Elevation of the nasal border. Complete peripapillary halo.
Stage 3 - Moderate Optic-disc Edema
Obscurations of all borders. Increased diameter of ONH. Obscuration of one or more segments of major blood vessels leaving the disc. Peripapillary halo - irregular outer fringe with finger-like extensions.
Stage 4 - Marked Optic-disc Edema
Elevation of the entire nerve head. Obscuration of all borders. Peripapillary halo. Total obscuration on the disc of a segment of a major vessel.
Stage 5 - Severe Optic-disc Edema
Dome-shaped protrusions representing anterior expansion of the ONG. Peripapillary halo is narrow and smoothly demarcated. Total obscuration of a segment of a major blood vessel may or may not be present. Obliteration of the optic cup.
Cutis verticis gyrata (CVG) is a medical condition usually associated with thickening of the scalp. People show visible folds, ridges or creases on the surface of the top of the scalp. The number of folds can vary from 2 to roughly 10 and are typically soft and spongy. These folds cannot be corrected with pressure. The condition typically affects the central and rear regions of the scalp, but sometimes can involve the entire scalp.
Hair loss can occur over time where the scalp thickens, though hair within any furrows remains normal. Thus far, due to the (apparent) rarity of the condition, limited research exists and causes are as yet undetermined. What is known, is that the condition is not exclusively congenital.
The condition was first reported by Alibert in 1837, who called it "cutis sulcata". A clinical description of the condition was provided by Robert in 1843 and was named by Unna in 1907. It has also been called "Robert-Unna syndrome", "bulldog scalp", "corrugated skin", "cutis verticis plicata", and "pachydermia verticis gyrata".
According to guidelines set forth by the Space Medicine Division, all long-duration astronauts with postflight vision changes should be considered a suspected case of VIIP syndrome. Each case could then be further differentiated by definitive imaging studies establishing the postflight presence of optic-disc edema, increased ONSD and altered OCT findings. The results from these imaging studies are then divided into five classes that determine what follow-up testing and monitoring is required.
The first sign of umbilical cord prolapse is usually a sudden decrease in fetal heart rate that is severe and does not immediately resolve. On a fetal heart tracing, this would usually look like moderate to severe variable decelerations. Occasionally, the cord can be seen or felt on vaginal examination, particularly with overt cord prolapse.
The Maisonneuve fracture is a spiral fracture of the proximal third of the fibula associated with a tear of the distal tibiofibular syndesmosis and the interosseous membrane. There is an associated fracture of the medial malleolus or rupture of the deep deltoid ligament. This type of injury can be difficult to detect.
The Maisonneuve fracture is similar to the Galeazzi fracture in the sense that there is an important ligamentous disruption in association with the fracture. The fracture is named after the surgeon Jules Germain François Maisonneuve.
CVG is classified according to the presence, or lack of underlying cause. Studies suggest that CVG often occurs in individuals in a secondary form to other ailments. However, the condition can also be present on its own. CVG can be classified into two forms: ‘primary’ (essential and non-essential) and ‘secondary’.
The classifications are:
Primary essential CVG is where the cause of the condition in unknown. It has no other associated abnormalities. This occurs mainly in men, with a male:female ratio of 5 or 6:1, and develops during or soon after puberty. Because of the slow progression of the condition, which usually occurs without symptom, it often passes unnoticed in the early stage
Primary non essential CVG can be associated with neuropsychiatric disorders including cerebral palsy, epilepsy, seizures and ophthalmologic abnormalities, most commonly cataracts.
Secondary CVG occurs as a consequence of a number of diseases or drugs that produce changes in scalp structure. These include: acromegaly (excessive growth hormone levels due to pituitary gland tumours), excessive drug use that mimics acromegaly (including the injection of growth hormone itself and drugs that stimulate growth hormone output, such as GHRP-6 and CJC-1295), melanocytic naevi (moles), birthmarks (including connective tissue naevi, fibromas and naevus lipomatosus), and inflammatory processes (e.g., eczema, psoriasis, Darier disease, folliculitis, impetigo, atopic dermatitis, acne).
Loin Pain Hematuria Syndrome ", aka "LPHS, is the combination of debilitating unilateral or bilateral flank pain and microscopic or macroscopic amounts of blood in the urine that is otherwise unexplained.
Loin pain-hematuria syndrome (LPHS) is a poorly defined disorder characterized by recurrent or persistent loin (flank) pain and hematuria that appears to represent glomerular bleeding. Most patients present with both manifestations, but some present with loin pain or hematuria alone. Pain episodes are rarely associated with low-grade fever and dysuria, but urinary tract infection is not present. The major causes of flank pain and hematuria, such as nephrolithiasis and blood clot, are typically not present. Renal arteriography may suggest focally impaired cortical perfusion, while renal biopsy may show interstitial fibrosis and arterial sclerosis.
The pain is typically severe, and narcotic therapy is often prescribed as a way to manage chronic pain. Sleep can be difficult because the supine position increases pressure on the flank. The onset of pain is often associated with nausea and vomiting, making pain management by oral opiates complicated.
Testicular rupture is a rip or tear in the tunica albuginea resulting in extrusion of the testicular contents, including the seminiferous tubules. It is a rare complication of testicular trauma, and can result from blunt or penetrating trauma, though blunt trauma is more likely to cause rupture. Testicular rupture typically results from trauma sustained during a motor vehicle crash or sports play, mainly affects those from the ages of 10-30. The main symptoms of testicular rupture are scrotal swelling and severe pain, which can make diagnosis difficult. Testicular rupture should be suspected whenever blunt trauma to the scrotum has been sustained. Treatment consists of surgical exploration with repair of the injury.
Symptoms of myocardial rupture are recurrent or persistent chest pain, syncope, and distension of jugular vein. Sudden death caused by a myocardial rupture is sometimes preceded by no symptoms.
Symptoms of subdural hemorrhage have a slower onset than those of epidural hemorrhages because the lower pressure veins bleed more slowly than arteries. Therefore, signs and symptoms may show up in minutes, if not immediately but can be delayed as much as 2 weeks. If the bleeds are large enough to put pressure on the brain, signs of increased ICP (intracranial pressure) or damage to part of the brain will be present.
Other signs and symptoms of subdural hematoma can include any combination of the following:
- A history of recent head injury
- Loss of consciousness or fluctuating levels of consciousness
- Irritability
- Seizures
- Pain
- Numbness
- Headache (either constant or fluctuating)
- Dizziness
- Disorientation
- Amnesia
- Weakness or lethargy
- Nausea or vomiting
- Loss of appetite
- Personality changes
- Inability to speak or slurred speech
- Ataxia, or difficulty walking
- Loss of muscle control
- Altered breathing patterns
- Hearing loss or hearing ringing (tinnitus)
- Blurred Vision
- Deviated gaze, or abnormal movement of the eyes.
Uterine rupture is a serious event during childbirth by which the integrity of the myometrial wall is breached. In an incomplete rupture the peritoneum is still intact. With a complete rupture the contents of the uterus may spill into the peritoneal cavity or the broad ligament. A uterine rupture is a life-threatening event for mother and baby.
A uterine rupture typically occurs during active labor, but may also develop during late pregnancy.
Uterine dehiscence is a similar condition, but involves fewer layers, less bleeding, and less risk.
90% of ruptured testes are successfully repaired when treated surgically within 72 hours; the percentage of successful treatment drops to 45% after this period. Though not typically fatal, testicular rupture can cause hypogonadism, low self-esteem, and infertility.
Symptoms range from dry eye, epiphora, and irritation, to localized pain, foreign body sensation, subconjunctival hemorrhage, and ulceration. Symptoms are often made worse by vigorous blinking. Diagnosis can be made under a slit lamp upon the observation of redundant conjunctival folds. These folds can be made more apparent by staining with fluorescin dye and by applying gentle upward pressure with a finger to the eyeball through the lower lid. A tear-clearance test can also detect irregularities in the tear-film.
There are three types of umbilical prolapse that can occur:
- overt umbilical cord prolapse: descent of the umbilical cord past the presenting fetal part. In this case, the cord is through the cervix and into or beyond the vagina. Overt umbilical cord prolapse requires rupture of membranes. This is the most common type of cord prolapse.
- occult umbilical prolapse: descent of the umbilical cord alongside the presenting fetal part, but has not advanced past the presenting fetal part. Occult umbilical prolapse can occur with both intact or ruptured membranes.
- funic (cord) presentation: presence of the umbilical cord between the presenting fetal part and fetal membranes. In this case, the cord has not passed the opening of the cervix. In funic presentation, the membranes are not yet ruptured.
Myocardial rupture is a laceration or t
e ventricles or atria of the heart, of the interatrial or interventricular septum, or of the papillary muscles. It is most commonly seen as a serious sequela of an acute myocardial infarction (heart attack).
It can also be caused by trauma.