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Skin and non-adhesive cells found to play pivotal role in the formation of fin
Human fingers are sculpted from a primitive pad-like structure during embryonic development. Sometimes, this process goes awry and babies are born with fused fingers or toes. A new study from the University of California, Irvine reveals new factors involved in the congenital malformation called syndactyly. (2020-02-27)

New year brings new hope to children born with cleft lip, palate
Building on a tradition of volunteering and philanthropy, members of the American Society of Plastic Surgeons will usher in 2009 by demonstrating, (2009-01-07)

New mouse model could be key to understanding role of folic acid in preventing birth defects
Researchers have created the world's first genetically- engineered mouse model to explain how folic acid protects against human birth defects. The development of this tool will enable researchers to understand how folic acid protects against birth defects such as neural tube defects and cleft lip and palate. (1999-09-30)

Bone lengthening technique proves useful in patients with cleft palate
A technique called distraction osteogenesis can create increased length of the upper jaw in patients with cleft lip and palate deformities, reports a study in the March issue of the Journal of Craniofacial Surgery, edited by Mutaz B. Habal, M.D., published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health. (2014-03-14)

JDR special issue on orofacial clefting and dental and craniofacial anomalies
The International and American Associations for Dental Research (IADR/AADR) have published a special issue in the Journal of Dental Research (JDR) on orofacial clefting and dental and craniofacial anomalies. Topics in this special issue range from tooth number and root formation, human and animal genetic studies on orofacial clefting, reviews that prioritize the variants most likely to cause disease, the pathways required for palatogenesis, experimental articles on the periderm and drug therapy articles that rescue cleft palate in mutant mice. (2017-09-20)

The mystery behind cleft palate and lips: Study shines a light on genetic factors
Researchers found more than 100 new genes that could lead to the development of cleft lip and palates. The team discovered that genetic variants near these genes are in regions of the genome called enhancers, which regulate expression of genes to maintain proper cell identity. (2019-05-01)

Immunosuppressant further linked to birth defects
A new study documents malformations seen in an infant born to a kidney transplant recipient who had taken mycophenolate mofetil, a widely used immunosuppressant available commercially as Cellcept. (2008-02-06)

Less decline than expected in brain, spine defects after folic acid fortification program
There is less decline than expected in the rate of brain and spine defects after a folic acid fortification program, a Stanford study finds. (2016-05-18)

UCLA study finds no evidence linking anti-nausea drug to birth defects
A new study by a UCLA researcher has found no evidence to link the anti-nausea drug to an increased risk of birth defects. (2016-05-09)

Children with craniofacial defects face most difficult social pressures in grade school
Elementary school children with craniofacial anomalies show the highest levels of anxiety, depression and difficulties in peer interactions when compared to youths with craniofacial defects in middle and high schools. The findings suggest that keeping a close watch for these signs and educating the child's peers about their condition may be necessary for this age group. (2017-09-28)

Medication taken for nausea during pregnancy not associated with increased risk of major malformations
In an analysis that included more than 40,000 women exposed to the nausea medication metoclopramide in pregnancy, use of this drug was not associated with significantly increased risk of major congenital malformations overall, spontaneous abortion, and stillbirth, according to a study in the Oct. 16 issue of JAMA. (2013-10-15)

Moms' smoking linked to increased risk of birth defects
Instead of relying on self-reporting, researchers measured the levels of cotinine, a metabolite of nicotine, in the blood of 500 pregnant women and confirmed earlier findings that showed that babies whose mothers smoked during pregnancy were more than twice as likely to have a cleft palate or lip as those whose mothers didn't. (2008-11-05)

Families of orofacial clefting not at higher risk for dental anomalies
Today, the International and American Associations for Dental Research published a study titled 'Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting,' which is the largest international cohort to date of children with nonsyndromic clefts, their relatives and controls. (2015-06-16)

Penn study demonstrates genes' major role in skin and organ development
Knocking out one or both crucial regulatory genes caused cleft lip, skin barrier defects, and a host of other developmental problems in mice, hinting that abnormalities in these molecular pathways could underlie many birth defects that are presently not well understood. The two closely related regulatory genes are active in the normal development of mammals and govern how RNAs produced from the genes are joined to make final versions of the encoded protein. (2015-09-15)

Scientists uncover evolutionary keys to common birth disorders
The work of Forsyth scientist Peter Jezewski, D.D.S, Ph.D., has revealed that duplication and diversification of protein regions ( (2009-01-14)

Osteopathic student garners national award for cleft palate research
A College of Osteopathic Medicine student has been awarded the prestigious Ruth L. Kirschstein National Research Service Award from the National Institutes of Health for his work on identifying the causes leading to cleft palate. Youssef Kousa, a fifth-year candidate in the college's D.O.-Ph.D. program, will receive $65,000 over 21 months for tuition, fees and a stipend. (2012-02-07)

UCSF researcher reports on protein therapy to reverse facial birth defects
New research from UCSF shows that a brief deprivation of vitamin A in the heads of developing chickens can generate severe craniofacial deformities, and that dosing the chicken embryo with a regulatory protein can restore a near normal face. (2000-02-14)

Is tap water safe for expectant mothers?
Drinking water disinfected by chlorine while pregnant may increase the risk of having children with heart problems, cleft palate or major brain defects, according to a study published today in BioMed Central's open access journal Environmental Health. (2008-06-02)

Newly found protein helps cells build tissues
Brown University biologists have found a new molecule in fruit flies that is key to the information exchange needed to build wings properly. They have also uncovered evidence that an analogous protein may exist in people and may be associated with problems such as cleft lip, or premature ovarian failure. (2012-04-02)

Cleft palate in fetal mice prevented by treating
Mice engineered to have cleft palates can be rescued in utero by injecting the mothers with a small molecule to correct the defect, say scientists at the Stanford University School of Medicine and Lucile Packard Children's Hospital. (2007-02-11)

Babies need free tongue movement to decipher speech sounds
Inhibiting infants' tongue movements impedes their ability to distinguish between speech sounds, researchers with the University of British Columbia have found. The study is the first to discover a direct link between infants' oral-motor movements and auditory speech perception. (2015-10-12)

Study: Speaking, eating possible after tonsil cancer surgery with reconstruction
A new technique for reconstructing the palate after surgery for tonsil cancer maintained patients' ability to speak clearly and eat most foods, a new study shows. (2009-09-21)

Inhaled betadine leads to rare complication
A routine step in preparing for cleft palate surgery in a child led to an unusual -- but not unprecedented -- case of lung inflammation (pneumonitis), according to a report in the The Journal of Craniofacial Surgery. The journal, edited by Mutaz B. Habal, M.D., FRCSC, is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health. (2013-02-21)

Thyroid disease raises risk for birth defects
Women with thyroid disease are more likely to give birth to babies with heart, brain and kidney defects even if the thyroid function tests are normal during the pregnancy, according to new research from Johns Hopkins. (2002-01-17)

Lab-engineered muscle implants restore function in animals
New research shows that exercise is a key step in building a muscle-like implant in the lab with the potential to repair muscle damage from injury or disease. In mice, these implants successfully prompt the regeneration and repair of damaged or lost muscle tissue, resulting in significant functional improvement. (2012-07-16)

Video imaging provides dynamic view of airway obstruction in those with sleep breathing disorder
A video imaging technique demonstrates that the soft palate, the tissue at the back of the roof of the mouth, is more elongated and angled in patients with obstructive sleep apnea both when they sleep and when they are awake, according to a report in the February issue of Archives of Otolaryngology-Head & Neck Surgery, one of the JAMA/Archives journals. (2009-02-16)

DNA details suggest how human chromosomes break, rearrange and cause a genetic disease
Chromosome 22, one of the smallest human chromosomes, is known to be a hot spot for disease. Genetics researchers at The Children's Hospital of Philadelphia are teasing out details of unusual, unstable DNA structures that make the chromosome particulaly vulnerable to defects and rearrangements that may result in diseases. (2000-06-25)

Mom's smoking alters fetal DNA
A study of over 6,000 mothers and their newborn children -- one of the largest studies of its kind -- solidifies the evidence that smoking cigarettes while pregnant chemically modifies a fetus' DNA, mirroring patterns seen in adult smokers. The researchers also identify new development-related genes affected by smoking. The work, published March 31 in the American Journal of Human Genetics, suggests a potential explanation for the link between smoking during pregnancy and health complications in children. (2016-03-31)

2010 AAO-HNSF miniseminars: Wednesday, Sept. 29, 2010
Featuring more than 305 scientific research sessions, 594 posters and several hundred instruction course hours for attendees, the annual meeting is a unique opportunity for journalists from around the world to cover breaking science and medical news. Reporters will have access to the latest research and clinical advances in the field of otolaryngology -- head and neck surgery. (2010-09-29)

Mapping a genetic risk
Clinicians and health researchers often look at gene mutation to predict whether a fetus is at risk for a birth defect, or a person is at risk of developing a disease, but these predictions are not always accurate. University of Calgary researchers have discovered an important factor that changes our understanding of the relationship between gene mutations (genotype) and how they present in people (phenotype) that may, one day, help to improve this accuracy. (2018-03-07)

Two genes linked to intellectual disability and circular skin creases on limbs
Clinical geneticists from KU Leuven, Belgium, have identified two genes that cause the rare congenital syndrome known as circumferential skin creases Kunze type. (2015-12-03)

Better maternal diet linked to lower risk of heart abnormalities in babies at birth
A relatively healthy diet before pregnancy is linked to a lower rate of certain heart abnormalities in babies at birth, finds research published in the Archives of Disease in Childhood (Fetal & Neonatal Edition). (2015-08-24)

How flu viruses gain the ability to spread
A new study from MIT and NIAID reveals the soft palate is a key site for evolution of airborne transmissibility. (2015-09-23)

For children with cleft lip and palate, no major psychological impact of repeated surgeries
Children born with cleft lip and cleft palate (CLP) commonly undergo multiple surgical procedures between infancy and adolescence. By the time they are teens, patients with CLP with more total surgeries do not have increased psychosocial problems. (2020-06-25)

Identification of rare ADCY9 mutations and non-syndromic oral clefts in Puerto Ricans
Today at the 45th Annual Meeting & Exhibition of the American Association for Dental Research, researcher Carmen Buxó-Martínez, University of Puerto Rico, San Juan, will present a study titled 'Identification of Rare ADCY9 Mutations and Non-syndromic Oral Clefts in Puerto Ricans.' (2016-03-18)

Science finds wines' fruity flavors fade first
Testing conventional wisdom with science, recently published research from Washington State University reveals how different flavors 'finish,' or linger, on the palate following a sip of wine. The study is one of the first to look at how different flavor components finish when standing alone or interacting with other compounds in white wines. (2014-05-05)

Fever in early pregnancy linked to birth defects, animal study shows
UC Berkeley researchers have helped find evidence indicating that the fever itself, not its cause, is what interferes with the development of the heart and jaw during the first three to eight weeks of pregnancy. (2017-10-11)

Clinical criteria for diagnosing autism inadequate for people with genetic conditions
People with certain genetic conditions are likely to have significant symptoms of autism, even if they do not meet all diagnostic criteria, a study concludes. (2021-01-01)

Hereditary lymphedema genetic mutations found
University of Michigan scientists have identified genetic mutations that cause a serious medical condition called hereditary lymphedema-distichiasis or LD. Discovering the gene is the first step toward a future diagnostic test for LD and increased scientific understanding of the gene's impact on early development of the heart and lymphatic system. (2000-11-07)

Veterinary researchers seek secret to reversing birth defects
Virginia Tech researchers have observed that maternal immune stimulation causes altered expression of critical genes in the fetus and suggest that there is routine cross-talk between fetus and mother via chemical mediators. Optimal maternal immune health may be important for protection against agents or events that lead to many birth defects. (2001-01-24)

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