Causes of Marfan syndrome
Marfan syndrome Causes: Book Excerpts
What causes Marfan syndrome?
Causes: Marfan syndrome:
Questions and Answers about Marfan Syndrome: NIAMS (Excerpt)
Marfan syndrome is caused by a defect (mutation) in the
gene that determines the structure of fibrillin, a protein that is an
important part of connective tissue.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)
This disorder results
from mutations in the gene that makes fibrillin-1, a protein
important to connective tissue.
(Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)
Related information on causes of Marfan syndrome:
As with all medical conditions,
there may be many causal factors.
Further relevant information on causes of Marfan syndrome may be found in:
Causes of Marfan syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the causes of Marfan syndrome.
Scoliosis & Kyphosis:
Differential Diagnosis
(In a Page: Signs and Symptoms)
Scoliosis
- Idiopathic (75–80% of cases) scoliosis usually occurs in otherwise healthy patients; pain and neurologic deficits are rare; right thoracic curve is most common, then double curve (right thoracic and left lumbar); named by convex side
–Infantile (birth to 3 years): Rare in the U.S.
–Juvenile (4–10 years): Uncommon
–Adolescent (11 years to skeletal maturity):
Occurs mostly in females
-
Neuromuscular scoliosis
–Common with paralytic disorders
–More severe, almost always progressive
-
Congenital scoliosis
–Failure of formation or segmentation
Kyphosis
-
Postural roundback
-
Scheuermann's disease
–Second most common pediatric spinal deformity
–Cannot voluntarily correct
–Angulation in mid- to low-thoracic spine
-
Congenital kyphosis
Less common etiologies (“zebras”)
-
Post-thoracotomy
-
Marfan's syndrome
-
Neurofibromatosis
-
Achondroplasia
-
Diastrophic dwarfism
-
Specific neuromuscular disorders (e.g., cerebral palsy, syringomyelia, polio, muscular dystrophy, cord tumor/trauma)
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Scoliosis:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Idiopathic scoliosis
–Lateral deviation or curvature of either the
thoracic or lumbar spine greater than 10°
–Right thoracic curves are most common
–Usually presents in early adolescence
–Girls > boys
-
Risk factors for progression
–Curve >20°
–Age less than 12
–Skeletal maturity, Risser stage 0–1
-
Infantile idiopathic scoliosis
–Presents at 0–3 years old
–Left thoracic curve more common
–Boys > girls
–85% spontaneously resolve
–Must rule out spinal cord disease or
congenital cause of scoliosis
-
Juvenile idiopathic scoliosis presents at 3–10 years old and is similar to adolescent (idiopathic) scoliosis
- Neuromuscular scoliosis
–Related to cerebral palsy, muscular dystrophy, myotonic myopathy, and spinal muscular atrophy
–Tends to progress more rapidly and even continues after maturity, as compared to idiopathic scoliosis
–Pulmonary complications seen with severe curves >90°
-
Congenital scoliosis
–Failure of formation or segmentation of spinal vertebra
–Rapid progression and worse prognosis is associated with unilateral unsegmented bar with contralateral hemivertebra
-
Other causes
–Tumor, infection, neurofibromatosis, metabolic bone disorders, and Marfan syndrome
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Asymmetric Limbs:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Physiologic: Left leg is often longer than right, and right arm is longer than left, though it is usually not noticeable
-
Disturbances of bone
–Increased blood flow such as occurs in arthritis (infectious, inflammatory), neoplasms, or AVM
–Premature closure of epiphysis occurs with infection, fracture, radiation therapy, JRA
–Fracture may also result in malposition or
malunion
–Diaphyseal operations (bone grafts,
osteotomy)
–Developmental dysplasia of the hip
–Coxa vara, tibia vara (Blount disease)
–Hypoplastic bones (short femur)
–Legg-Calvé-Perthes disease
–SCFE
–Syndromes such as Albright; Ollier disease;
neurofibromatosis
–Rickets
- Hemihypertrophy
–Idiopathic: May be associated with other anomalies involving GU tract, hemangiomas, mental retardation, and pigmented skin lesions
–Associated with tumors: Wilms, adrenocortical, hepatoblastoma
–Associated with dysmorphogenic syndromes: Beckwith-Wiedemann, Russell-Silver,
Proteus
–Associated with soft tissue abnormalities: Lymphedema, Klippel-Trenaunay-Weber syndrome
-
Neuromuscular disorders
–Cerebral palsy
–Poliomyelitis
–Myelomeningocele
–Peripheral neuropathy
–Focal cerebral lesions (Sturge-Weber
syndrome)
–Stroke (due to coagulopathies, sickle cell disease)
-
Hemophilia (bleeding into a joint)
-
Reflex sympathetic dystrophy (RSD)
-
Congenital syphilis
-
Absence or hypoplasia of thumb and radius (Holt-Oram syndrome, TAR syndrome)
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Marfan syndrome:
Causes
(Professional Guide to Diseases (Eighth Edition))
Marfan syndrome is inherited as an autosomal dominant trait of chromosome 15. It's caused by mutations in gene fibrillin-1, producing changes in elastic tissues, especially of the aorta, eye, and skin. Mutations of fibrillin-1 also cause overgrowth of long bones. In 85% of patients with this disease, the family history confirms Marfan syndrome in one parent as well. In the remaining 15%, a negative family history suggests a fresh mutation, possibly from advanced paternal age.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Scoliosis:
Causes and incidence
(Professional Guide to Diseases (Eighth Edition))
Scoliosis may be functional, structural, or idiopathic. Functional (postural) scoliosis usually results from a discrepancy in leg lengths rather than from a fixed deformity of the spinal column; it corrects when the patient bends toward the convex side. Structural scoliosis results from a deformity of the vertebral bodies, and it doesn’t correct when the patient bends to the side. Structural scoliosis may be:
❑ congenital: usually related to a congenital defect, such as wedge vertebrae, fused ribs or vertebrae, or hemivertebrae; may result from trauma to zygote or embryo
❑ paralytic or musculoskeletal: develops several months after asymmetrical paralysis of the trunk muscles due to polio, cerebral palsy, or muscular dystrophy
❑ idiopathic (the most common form): may be transmitted as an autosomal dominant or multifactorial trait. This form appears in a previously straight spine during the growing years. Brain stem dysfunction, possibly due to a lesion of the posterior columns or the inner ear, may be the cause.
Idiopathic scoliosis can be classified as infantile, which affects mostly male infants between birth and age 3 and causes left thoracic and right lumbar curves; juvenile, which affects both sexes between ages 4 and 10 and causes varying types of curvature; or adolescent, which generally affects girls between age 10 and achievement of skeletal maturity and causes varying types of curvature.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Salivation, increased [Polysialia, ptyalism]:
Medical causes
(Professional Guide to Signs & Symptoms (Fifth Edition))
Bell’s palsy
Paralysis of the facial nerve causes an inability to control salivation or close the eye on the affected side.
Pregnancy
In the early months of pregnancy, many women experience increased salivation, nausea, and breast tenderness.
Stomatitis
Mucosal ulcers may be accompanied by moderately increased salivation, mouth pain, fever, and erythema. Spontaneous healing usually occurs in 7 to 10 days, but scarring and recurrence are possible.
Syphilis
With secondary syphilis, mucosal ulcers cause increased salivation that may persist up to a year. Related findings include fever, malaise, headache, anorexia, weight loss, nausea, vomiting, sore throat, and generalized lymphadenopathy. A bilaterally symmetrical rash appears on the arms, trunk, palms, soles, face, and scalp. Condylomata develop in the genital and perianal areas.
Tuberculosis
Certain forms of tuberculosis may produce solitary, irregularly shaped mouth or tongue ulcers, covered with exudate, that cause increased salivation. Other findings include weight loss, anorexia, fever, fatigue, malaise, dyspnea, cough, night sweats (a common sign), and hemoptysis.
Other causes
Arsenic poisoning
Common effects of arsenic poisoning are diarrhea, diffuse skin hyperpigmentation, and edema of the eyelids, face, and ankles; increased salivation occurs infrequently. The patient may also exhibit garlicky breath odor, pruritus, alopecia, irritated mucous membranes, headache, drowsiness, and confusion. He may also develop muscle aching, weakness, seizures, and paresthesia in a stocking-glove distribution pattern.
Drugs
Increased salivation may occur with iodide toxicity, but the earliest symptoms are a brassy taste and a burning sensation in the mouth and throat. Associated findings include sneezing, irritated eyelids, and (commonly) pain in the frontal sinus.
Pilocarpine and other miotics used to treat glaucoma may be absorbed systemically, increasing salivation. Cholinergics, such as bethanechol, may also cause this symptom.
Mercury poisoning
Stomatitis, characterized by increased salivation and a metallic taste, commonly occurs in those with mercury poisoning. The patient’s teeth may be loose and his gums are painful, swollen, and prone to bleeding. A blue line appears on the gingivae. The patient may also experience personality changes, memory loss, abdominal cramps, diarrhea, paresthesia, and tremors of the eyelids, lips, tongue, and fingers.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Scoliosis:
Causes
(Handbook of Diseases)
Scoliosis may be functional or structural. Functional (postural) scoliosis usually results from poor posture or a discrepancy in leg lengths, not fixed deformity of the spinal column. In structural scoliosis, curvature results from a deformity of the vertebral bodies.
Structural scoliosis may be one of three types:
❑ Congenital scoliosis is usually related to a congenital defect, such as wedge vertebrae, fused ribs or vertebrae, or hemivertebrae.
❑ Paralytic or musculoskeletal scoliosis develops several months after asymmetrical paralysis of the trunk muscles from polio, cerebral palsy, or muscular dystrophy.
❑ Idiopathic scoliosis (the most common form) may be transmitted as an autosomal dominant or multifactoral trait. This form appears in a previously straight spine during the growing years.
Idiopathic scoliosis can be classified as infantile, which affects mostly male infants between birth and age 3 and causes left thoracic and right lumbar curves; juvenile, which affects both sexes between ages 4 and 10 and causes varying types of curvature; or adolescent, which generally affects girls between age 10 and achievement of skeletal maturity and causes varying types of curvature.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Salivation, increased:
Medical causes
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
Bell’s palsy
With Bell’s palsy, paralysis of the facial nerve causes an inability to control salivation or close the eye on the affected side. The affected side of the face sags and is expressionless, the nasolabial fold flattens, and the palpebral fissure (the distance between the upper and lower eyelids) widens. The corneal reflex may be diminished or absent and the patient may have partial loss of taste or abnormal taste sensation.
Mercury poisoning
Stomatitis, characterized by increased salivation and a metallic taste, commonly occurs in those with mercury poisoning. The patient’s teeth may be loose and his gums are painful, swollen, and prone to bleeding. A blue line appears on the gingivae. The patient may also experience personality changes, memory loss, abdominal cramps, diarrhea, paresthesia, and tremors of the eyelids, lips, tongue, and fingers.
Pregnancy
In the early months of pregnancy, many women experience increased salivation, nausea, gum swelling, and breast tenderness.
Stomatitis
Mucosal ulcers may be accompanied by moderately increased salivation, mouth pain, fever, and erythema. Spontaneous healing usually occurs in 7 to 10 days, but scarring and recurrence are possible.
Syphilis
With secondary syphilis, mucosal ulcers cause increased salivation that may persist up to 1 year. Related findings include fever, malaise, headache, anorexia, weight loss, nausea, vomiting, sore throat, and generalized lymphadenopathy. A bilaterally symmetrical rash appears on the arms, trunk, palms, soles, face, and scalp. Condylomata develop in the genital and perianal areas.
Tuberculosis
Certain forms of tuberculosis may produce solitary, irregularly-shaped mouth or tongue ulcers, covered with exudate, that cause increased salivation. Other findings include weight loss, anorexia, fever, fatigue, malaise, dyspnea, cough, night sweats (a common sign), and hemoptysis.
Other causes
Drugs
Increased salivation may occur with iodide toxicity, but the earliest symptoms are a brassy taste and a burning sensation in the mouth and throat. Associated findings include sneezing, irritated eyelids, and (commonly) pain in the frontal sinus.
Pilocarpine and other miotics used to treat glaucoma may be absorbed systemically, increasing salivation. Cholinergics, such as bethanechol and neostigmine, may also cause this symptom.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
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