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Doctor insights on: Congenital Ptosis

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Blepharophimosis, ptosis, epicanthus inversus syndrome, what are these?

Blepharophimosis, ptosis, epicanthus inversus syndrome, what are these?

Congenital formation: Blepharophimosis: The eyelids have grown such that the opening is very tiny between the upper and lower lid. Ptosis: The usual meaning is that the muscle-tendon complex controlling the elevation of the upper eyelid is not maintaining the lift above the pupil, so the upper lid tends to cover the pupil. Epicanthus inversus: The skin fold coming up from below at the inner corner of the eye. ...Read more

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Dr. John Park
254 doctors shared insights

Drooping Eyelid (Definition)

Drooping eyelid (ptosis or blepharoptosis) = border of the upper eyelid sags ...Read more


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Blepharophimosis, ptosis, epicanthus inversus. What are they?

Blepharophimosis, ptosis, epicanthus inversus. What are they?

Congenital eyelid pr: These are congenital eyelid deformities. Blepharophemosis includes ptosis thelecanthus and epicanthus inverses. It is autosomal dominant inherited congenital disease of eyelids. ...Read more

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Is't curable double elevator palsy congenital ptosis with margus gun jaw winking ?..

Is't curable double elevator palsy congenital ptosis with margus gun jaw winking ?..

Surgery : Double elevator palsy, old term for monocular elevation deficiency: inability to elevate one eye resulting in one eye pointed down. 25% with monocular elevation deficiency and congenital ptosis have marcus gunn jaw-winking: mis-wired cranial nerve controls chewing or sucking is wired to the elevators of the eyelid causing a "wink" when chewing or sucking. Treat with surgery. Exercises useless. ...Read more

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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...Read more

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Cardiologists, what are the risks congenital heart defect corrective surgery?

Cardiologists, what are the risks congenital heart defect corrective surgery?

Depends on defect: Many factors contribute to risks of congenital heart disease Very simple defects usually routinely repaired and uneventful. More complex lesions more difficult and intricate to repair. Some fixes require multiple surgeries. Usually should be performed by experienced pediatric cardiac surgeons, Support personell help things run smoothly.Age of child and any associated comorbidities. ...Read more

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What is fontan operation in congenital heart defects?

What is fontan operation in congenital heart defects?

Fontan Procedure: The fontan is a surgery that connects the inferior venacava (ivc) to the pulmonary arteries. The fontan is the final surgery for patients who have a single ventricle or single ventricle physiology. This means that the blue blood, desaturated blood retruning to the heart is directed to the lungs without being pumped through the heart. ...Read more

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Can Chiari Malformation cause unilateral eyelid/eyebrow drooping. The severity of drooping changes ?

Can Chiari Malformation cause unilateral eyelid/eyebrow drooping. The severity of drooping changes ?

Chiari: Can cause unilateral ptosis. But other conditions should be excluded (like Myesthenia Graviis ) I suggest you see a neurologist to sort this out. ...Read more

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Removing a congenital cataract difficult?

Removing a congenital cataract difficult?

Congenital cataract: Congenital cataracts can be difficult to remove. However a pediatric ophthalmologist experienced in this type of surgery will do a good job for you. ...Read more

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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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What is congenital scoliosis?

What is congenital scoliosis?

Type of spine curve: There are multiple reasons for scoliosis &one is known as a congenital type which is when there is a deformity of the bones ( vertebra) of the spine that one is born with & leads to an early curvature of the spine. Some don't need surgery & others do. They tend to not respond to bracing & can be very progressive in terms of a rapidly worsening curve & may be associated with other medical issues. ...Read more

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