Modest Prevalence

Modest Prevalence – Manifestations of BCCNS

Diagnostic Findings in Adults – 15% – 45% frequency

Source: Robert J Gorlin, M. Michael Cohen, Jr., Raoul C. M. Hennekam. Gorlin’s Syndrome of the Head and Neck, 4th Edition. Pages 444-453. New York, New York: Oxford University Press, 2001.

Brain Ventricle Asymmetry

Associated Terms: None

What is brain ventricle asymmetry?
The brain ventricles are deep inside our brains, and are the fluid filled chambers that contain cerebrospinal fluid. These connect with one and other, and keep the brain cushioned. When they are not symmetric, there may be more fluid in one chamber, on one side than the other.

What You Should Know
Some individuals with brain ventricle asymmetry have no symptoms. Others may suffer from a wide variety of difficulties.

If one has asymmetry of the brain ventricles, they should seek medical help from a professional in the field (neurologist or neurosurgeon).

Additional Resources

Calcified Ovarian Fibromas

Associated Terms: Calcified ovarian cysts, ovarian cysts

What are calcified ovarian fibromas?
Calcified ovarian fibromas in women with BCCNS are most often bilateral. They are not fluid filled. Because they are calcified, they are readily seen on abdominal ultrasound which is ideal since repeated radiologic studies (x-rays, CT scans) should be avoided when possible.

What You Should Know:
Females with BCCNS should be monitored regularly starting in their early teen years (or sooner).

Discuss this with your pediatrician or general medical doctor. Request a referral to a gynecologist who will order and evaluate the ultrasound results. Calcified ovarian fibromas are removed surgically.

Additional Resources

Pectus Excavatum or Carinatum

Associated Terms: None

What is pectus excavatum or carinatum?
Pectus excavatum is a deformity of the front wall of the chest. The sternum and rib cage grow abnormally and this causes a sunken or caved in appearance.
Pectus carinatum is also called “Pidgeon chest”. Here, the same bones grow in a manner that causes the chest wall to protrude outward.

What You Should Know
Many individuals with each of these deformities require no treatment. If the deformities are severe, surgical treatment may be necessary. Discuss this with your doctor. It may be necessary to be evaluated by a chest surgeon.

Additional Resources

Short Fourth Metacarpal

Associated Terms: None

What is a short fourth metacarpal?
The metacarpal bone is in the hand, leading to the fourth or ring finger. Generally, this boney change does not cause any problems for the individual.

What You Should Know
Discuss this with your doctor. If it is causing symptoms of any kind, consider seeing an orthopedic surgeon specializing in hands.

Additional Resources

Synophrys

Associated Terms: unibrow or monobrow

What is Synophrys?
A synophrys is a fusion of the two eyebrows above the bridge of the nose, creating a single eyebrow.

What You Should Know
Some individuals with a uni-brow choose to shave or pluck those in the middle to create the look of two eyebrows. If this path is taken, it should be understood that once removed, hair may never grow back.

Additional Resources
None

Syndactyly

Associated Terms: Web fingers or toes

What is Syndactyly?
Individuals with syndactyly have retained webbing of the fingers and / or toes.

What You Should Know
This deformity can be surgically repaired. Usually this is carried out by a plastic surgeon or a hand surgeon.

Additional Resources

Strabismus

Associated Terms: Extropia

What is Strabismus?
Strabismus is the outward turning of one or both eyes. This can be intermittent or constant.

What You Should Know
Individuals with strabismus should be seen by an ophthalmologist. Vision Therapy may also be beneficial prior to considering surgery. Intermittent strabismus is successfully treated most of the time with patching of the affected eye. Surgery is used after conservative therapies fail.

Constant strabismus can be initially treated conservatively with patching, Vision Therapy, orthoptics (eye muscle training). Surgery may be necessary.

Additional Resources

Kyphoscoliosis or Other Vertebral Anomalies

Associated Terms: None

What is Kyphoscoliosis?
Kyphoscoliosis is a combination of kyphosis and scoliosis. Kyphosis is a curve of thoracic and or sacral vertebrae of more than forty-five degrees when one looks at the body from the side. Scoliosis is a curve in any region of the spine when viewed from the back.

What You Should Know
Patients with kyphoscoliosis and other vertebral anomalies should be seen by the appropriate physician(s). This may be an orthopedic surgeon specializing in back problems or a neurosurgeon.

Treatments may include physical therapy and back braces. In severe cases, after conservative treatments do not work out, surgery may be necessary.

Additional Resources

Lumbarization of the Sacrum

Associated Terms: None

What is lumbarization of the sacrum?
Lumbarization of the sacrum is when the vertebrae of the sacrum appear on x-ray like the lumbar vertebrae. The sacrum of an individual with lumbarization is not as fused as the normal sacrum.

What You Should Know
Evaluation by an orthopedic surgeon and / or neurosurgeon is advisable if pain develops. If pain develops and evaluation reveals that this is caused by the lumbarization of the sacrum, anti-inflammatory and pain medications, as well as physical therapy may help. Surgery to correct the defect may be required if conservative therapy does not help.

Additional Resources

Prognathism

Associated Terms: None

What is Prognathism?
Prognathism is the position of the upper jaw in relation to the lower jaw. In mandibular (lower jaw) prognathism, the lower jaw is positioned forward of the upper jaw (maxilla). Prognathism of the maxilla results in the upper jaw being forward of the lower.

What You Should Know
This problem can lead to misalignment of the upper and lower teeth. Individuals with prognathism should be evaluated carefully by their dentist, and possibly an orthodontist and oral surgeon.

Additional Resources

Narrow Sloping Shoulders

Associated Terms: None

What is Narrow sloping shoulders?
This clinical manifestation of BCCNS is noted visually and does not often have any symptoms.

What You Should Know
If the narrow sloping shoulders seem to cause discomfort, and / or limitation of motion, the individual should be evaluated by an orthopedic surgeon. Physical therapy may help.

Additional Resources
None

Calcification of Tentorium Cerebelli and Petroclinoid Ligament

Associated Terms: None

What is calcification of tentorium cerebelli and petroclinoid ligament?
The tentorium cerebelli is a fold in the dura mater (covering of the brain) that separates the cerebellum from the inferior portion of the occipital lobes of the brain. In individuals with BCCNS who have this manifestation, this fold is calcified.

There are two pretroclinoid ligaments in the brain. The anterior one is an extension of the tentorium cerebelli (see above). These ligaments may be calcified in individuals with BCCNS.

What You Should Know
If these manifestations are found, discuss them with the appropriate physician (possibly a neurologist).

Additional Resources
https://radiopaedia.org/articles/tentorium-cerebelli
https://radiopaedia.org/articles/petroclinoid-ligaments

Pseudocystic Lytic Lesions of Bones (Hamartomas)

Associated Terms: None

What is pseudocystic lytic lesions of bones (hamartomas)?
A hamartoma is a benign (not cancerous) lesion, in this case, of a bone. They develop from the abnormal formation of normal bone tissue. A pseudocyst is a cyst that looks this way on scans but does not have epithelial or endothelial cells. Lytic lesions of bones can be destructive and result in breaks, and / or pathologic fractures.

What You Should Know
If bone pain develops, one should seek medical advice. It is most appropriate to be seen by an orthopedic physician. Treatment will be up to the doctor and could include casting and surgery.

Additional Resources
http://appliedradiology.com/articles/general-approach-to-lytic-bone-lesions

X