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Doctor insights on: Craniofacial Abnormalities

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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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Are cleft lips/palates discovered/diagnosed during an anatomy scan?

Are cleft lips/palates discovered/diagnosed during an anatomy scan?

At birth: Cleft lip and/or cleft palate is visible at birth, and will be noted by the pediatrcian who examines the newborn. There is a rare anatomic anomaly called a submucous cleft, where the palatal bone does not fuse, but the overlying tissue looks normal, that is discoverable by palpation and x-ray. ...Read more

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What causes genetic abnormalities in fetus?

What causes genetic abnormalities in fetus?

A few things: Often genetic abnormalities arise spontaneously. Some are due to genetic problems that are passed down in family lines. Some are due to the way the chromosomes from sperm and egg meet and form in an embryo. Lastly, some can be due to exposure radiation which can damage genes. If you're worried that your fetus might have abnormality, you can discuss with geneticist to understand risks. ...Read more

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Where can I find ultrasound images of fetal congenital heart defects?

Where can I find ultrasound images of fetal congenital heart defects?

Www.thefetus.net.: Try the above website for many fetal anomalies, including cardiac lesions. ...Read more

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Who performs a fetal echo? Pediatric cardiology or perinatology?

Who performs a fetal echo? Pediatric cardiology or perinatology?

Either can, but: A pediatric cardiologist is specifically skilled in congenital heart disease, and is more likely to catch as much detail as possible. They can also counsel parents in more detail about discovered abnormalities. ...Read more

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Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Not necessarily: Newer genetic tests provide incite into a variety of issues like autism & other developmental variations.Yet causation remains elusive in many cases.Sadly, an injury to the developing brain centers from an unrecognized event in an otherwise normal pregnancy is a likely cause for many.This occurs in at least half of cerebral palsy cases & dev.Delay could be produced in others, yet hard to prove. ...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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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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Are heart valve abnormalities classified as birth defects?

Are heart valve abnormalities classified as birth defects?

Some: A bicuspid aortic valve or a prolapsing mitral valve are present from birth. Many other heart valve abnormalities are acquired, either through scarring from infection, calcium deposition, or mal-apposition due to dilatation of cardiac chambers, among other things. ...Read more

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Does DNA or genes cause chromosomal abnormalities?

Does DNA or genes cause chromosomal abnormalities?

Chromosomal: Chromosomes are the packaging for the genes. Genes are made up of dna. Chromosomal abnormalities are extra chromosomes, deletions, duplications, or translocations of large chunks of dna. ...Read more

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Could pediatric neuro-sarcoidosis cause pituitary dwarfism (hyposomatotropism) in children ?

Could pediatric neuro-sarcoidosis cause pituitary dwarfism (hyposomatotropism) in children ?

It could be a cause: Causes of hypopituitarism can directly affect the pituitary gland or indirectly through the hypothalamus, which in turn affects the pituitary gland. Causes of hypopituitarism, of which there are many, includes sarcoidosis - a rare inflammation of the lymph nodes and other tissues throughout the body. ...Read more

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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...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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Is osteogenesis imperfecta considered a chromosomal abnormality?

Is osteogenesis imperfecta considered a chromosomal abnormality?

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly. ...Read more

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How many chromosome defects cause retardation?

Hundreds at least: We only know about a few hundred, probably thousands possible as each human is unique as are their choomasome array. ...Read more