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At least 523 records · Page 29Linked to original sources
PubMed1993

Isolated complex limb reduction abnormality diagnosed antenatally.

Congenital limb reduction defects are rare lesions that are usually associated with other anomalies. Terminal defects are the commonest reduction defects. The aetiology seems to be multifactorial. We present a case of congenital terminal deficiency of the same side of the upper and lower limbs diagnosed by ultrasound scanning during the second trimester. The fetus had an absent right fibula and right foot, a hypoplastic right hand and left talipes equinovarus. The pregnancy was terminated. Micrognathia was the only associated anomaly found on postmortem examination. The cause of this isolated anomaly is unknown but, because of the very variable presentation of limb reduction defects, could possibly fit into the categories so far described in the literature.

Adult↗
PubMed1983

Practical management of congenital choanal atresia.

Prevailing theories on the causation of choanal atresia are presented, with emphasis on some of the embryologic and anatomic abnormalities that are consistently found. The teleologic significance of nose breathing has been emphasized. This neonatal characteristic leads to a tongue-palate seal that can be rapidly fatal. Treatment of these patients has been divided into two phases. Phase I deals with immediate establishment of an airway, and phase II deals with the definitive surgical management in these patients. Our preference is for the transpalatine approach. Representative cases highlight our technique. A wire-reinforced double-barreled Elastomer stent has been developed and is described. Successful use in five patients is reported.

Humans↗
PubMed1991

A case report of congenital aglossia.

A case of congenital aglossia was orthodontically treated and long-term retention was observed from the age of 15 to 27. The patient had congenital absence of three lower incisors, abnormally small mandible (micrognathia), severe overbite and a telescopic bite in the premolar region accompanied by an extremely narrow lower arch. Orthodontic treatment was begun when the patient was 15 years and 6 months old. The active treatment period was 2 years and 9 months. At the present time, nine years have passed since the end of the active treatment, and intercuspation between the upper and lower arches is still good. It is suggested that the maintenance of the lower arch width is essential for long-term retention in cases of congenital aglossia.

Adolescent↗
PubMed1998

Transvaginal sonographic measurement of fetal lingual width in early pregnancy.

Our objective was to construct a nomogram of the fetal lingual size early pregnancy and to assess the size of the tongue in abnormal fetuses. The lingual width was measured by using transvaginal ultrasonography in 80 normal fetuses at 13 and 18 weeks' gestation. In addition the tongue was measured in 22 fetuses at these gestational ages who had an abnormal karyotype or oro-facial malformations. A linear relationship was found between the lingual width and gestational age in normal fetuses. The lingual size was within the normal range in cases of trisomy 13, trisomy 21 and Turner syndrome. A small tongue was observed in fetuses with micrognathia. Correlation between lingual width and gestational age was observed in early pregnancy. The relationship between the size of the tongue and oro-facial malformation needs further evaluation.

Chromosome Aberrations↗
PubMed2003

The Kabuki syndrome: four patients with oral abnormalities.

The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide spacing between the teeth, screwdriver-shaped upper incisors, hypodontia, delayed tooth eruption, narrow spacing in the upper canine area, large pulp chambers of the upper incisors and permanent molars, external root resorption of the upper central incisors and permanent molars, a division of the lower third of the root canal in normally one-rooted teeth, tooth retention, retrognathia of the upper jaw, a high palate or cleft lip/palate, and microforms of lower lip fistula.

Adolescent↗
PubMed2005

Oral and dental findings in Fanconi's anemia.

Fanconi's anemia is an autosomal recessive disorder characterized by progressive pancytopenia and congenital malformation of the skeleton. This study investigated the oral health status of 15 children with Fanconi's anemia, including oral lesions, gingival and periodontal status, and dental abnormalities. All children in the group were found to have a tendency to develop tooth decay and were in need of dental treatment. Two had aggressive periodontitis. In one patient supernumerary teeth were found, while in another teeth were congenitally missing. The increased tendency toward periodontal disease in patients with Fanconi's anemia may be due not only to the anemia, leukopenia, and defective detoxification of oxygen radicals that are characteristic of the disease itself, but also to medications applied during intense immunosuppressive treatment, such as prednisolone.

Adolescent↗
PubMed1997

Marshall-Stickler phenotype associated with von Willebrand disease.

We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von Willebrand disease (vWD). MS syndrome has been linked in some cases to the type II procollagen gene (COL2A1) on chromosome 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (vWF) is encoded by a 180-Kb gene located on the short arm of chromosome 12. This is the first reported association of these two disorders.

Adolescent↗
PubMed1997

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.

Adolescent↗
PubMed1996

Moebius syndrome: a review of the anaesthetic implications.

Moebius syndrome is a rare congenital anomaly characterized by multiple cranial nerve palsies, orofacial malformations and limb anomalies. This study retrospectively reviewed the anaesthetic records of 19 children with Moebius syndrome who had anaesthesia at the Royal Alexandra Hospital for Children over a 15 year period and analysed the complications which occurred. Affected children most commonly present for anaesthesia for correction of strabismus, or for orthopaedic procedures to improve limb function. Despite the abnormal facies and drooling of saliva, these children are almost always of normal intelligence. Problems can arise during anaesthesia, with a high incidence of difficult or failed intubation. The use of a facemask and spontaneous breathing technique, where appropriate, seems to present no problems and maintaining an airway in this way appears to be safe. However, the potential for problems with aspiration of oral secretions should be remembered and the use of antisialogogue premedication is recommended. Affected children have a high incidence of other anomalies, including congenital cardiac disease, spinal anomalies, corneal abrasions and peripheral neuropathies and a careful preoperative assessment is essential.

Adolescent↗
PubMed2006

Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin.

Insig-1 and Insig-2 are regulatory proteins that restrict the cholesterol biosynthetic pathway by preventing proteolytic activation of SREBPs and by enhancing degradation of HMG-CoA reductase. Here, we created Insig-double-knockout (Insig-DKO) mice that are homozygous for null mutations in Insig-1 and Insig-2. After 18.5 days of development, 96% of Insig-DKO embryos had defects in midline facial development, ranging from cleft palate (52%) to complete cleft face (44%). Middle and inner ear structures were abnormal, but teeth and skeletons were normal. The animals were lethargic and runted; they died within 1 day of birth. The livers and heads of Insig-DKO embryos overproduced sterols, causing a marked buildup of sterol intermediates. Treatment of pregnant mice with the HMG-CoA reductase inhibitor lovastatin reduced sterol synthesis in Insig-DKO embryos and reduced the pre-cholesterol intermediates. This treatment ameliorated the clefting syndrome so that 54% of Insig-DKO mice had normal faces, and only 7% had cleft faces. We conclude that buildup of pre-cholesterol sterol intermediates interferes with midline fusion of facial structures in mice. These findings have implications for the pathogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in which mutations in enzymes catalyzing steps in cholesterol biosynthesis produce a buildup of sterol intermediates.

Animals↗
PubMed2005

Part 1. Understanding the embryology and genetics of cleft lip and palate.

Craniofacial birth defects are the fourth most common congenital anomaly in newborns. Cleft lip and cleft palate (CL/CP) are the most common and immediately recognizable craniofacial anomalies. Some are diagnosed prenatally on ultrasound; more often, they are first noted in the delivery room. The infant may have a cleft that is unilateral, bilateral, complete, or incomplete, and it may involve the lip only, the palate only, or both. Cleft lip and/or cleft palate are often isolated nonsyndromic occurrences; however, when associated with other abnormal physical findings, a recognizable syndrome may be present. Part 1 of this 2-part article describes the incidence of CL/CP. The embryology of the face, lip, and palate are reviewed to enhance the understanding of the timing, complexity, and factors that may influence the development of this lesion. The emerging genetic links, environmental influences, and potential teratogens that may interact to contribute to CL/CP are discussed. Part 2 of this series will provide clinicians with tools to perform a focused risk assessment and obtain a detailed family and pregnancy history to evaluate for known associated risk factors for CL/CP. The article provides a guide for a systematic physical examination of infants with CL/CP. Careful assessment for other midline defects or physical findings consistent with associated syndromes is also discussed. Pictorial examples of a variety of forms of CL/CP are provided to enhance understanding of the spectrum of this defect. Treatment and long-term complications of CL/CP are reviewed with an emphasis on family support, identifying educational resources, and counseling.

Cleft Lip↗
PubMed1989

Clinical orodental abnormalities in Mexican children.

A total of 32,022 Mexican children (16,473 boys, 15,549 girls) were examined for several congenital oral and paraoral anomalies. The findings for commissural lip pits (boys 53.1, girls 52.4 per 1000) are less than those reported for adults. This may indicate that pits become accentuated with age. Fordyce granules were seen with a prevalence of 1.2 per 1000. This is in contrast to the reported 85.6% prevalence for the adult population, also possibly reflecting increased manifestation with increased age. Our data for exogenous tooth pigmentation show increased prevalence with age (group I [5 to 10 1/2 years], 9.8%, versus group II [10 1/2 to 14 1/2 years], 12.9%), possibly indicating decrease in attention to oral hygiene. The prevalence of talon cusp was found to be 0.6 per 1000, and for ankyloglossia 8.3 per 1000. Prevalence values for bifid tongue are reported for the first time, indicating one affected per 187 children examined. The prevalence of fissured tongue (15.7%) shows a statistically significant difference between boys (16.8%) and girls (14.5%). The prevalence of geographic tongue (1.9%) shows a marked difference between group I (2.2%) and group II (1.2%).

Adolescent↗
PubMed2005

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?

Abnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. Based upon suggestive evidence that periconceptional folic acid supplementation is effective in preventing a significant proportion of the aforementioned birth defects, genetic variation in the folate biosynthetic pathways may influence the infant's susceptibility to these birth defects. The goal of our study was to investigate sequence variations in the betaine-homocysteine methyltransferase (BHMT) and betaine-homocysteine methyltransferase (BHMT2) genes as modifiers of risk of spina bifida, cleft palate, and cleft lip and palate. The results of this study indicated that individuals homozygous for the single nucleotide polymorphism R239Q in BHMT did not have elevated risks for spina bifida. Genotype frequencies for the BHMT2 rs626105 polymorphism also did not reveal any elevated risks for spina bifida, and only a modest, imprecise elevation of risk for orofacial clefts. The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population.

Betaine-Homocysteine S-Methyltransferase↗
PubMed2005

Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.

Repairing DNA damage is critical during embryogenesis because development involves sensitive periods of cell proliferation, and abnormal cell growth or death can result in malformations. Knockout mouse experiments have demonstrated that disruption of DNA repair genes results in embryolethality and structural defects. Studies using mid-organogenesis rat embryos showed that DNA repair genes were variably expressed. It is hypothesized that polymorphisms that alter the functionality of DNA repair enzymes may modify the risk of malformations. We conducted a case-control analysis to investigate the relationship between DNA repair gene polymorphisms and the risk of spina bifida and oral clefts. Newborn screening blood spot DNA was obtained for 250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program, and 350 non-malformation controls identified from birth records. Six single nucleotide polymorphisms of five DNA repair genes representing three distinct repair pathways were interrogated including: XRCC1 (Arg399Gln), APE1 (Asp148Glu), XRCC3 (Thr241Met), hOGG1(Ser326Cys), XPD (Asp312Asn, Lys751Gln). Elevated or decreased odds ratios (OR, adjusted for race/ethnicity) for spina bifida were found for genotypes containing at least one copy of the variant allele for XPD [751Gln, OR = 1.62; 95% confidence interval (CI) = 1.05-2.50] and APE 148 (OR = 0.58; CI = 0.37-0.90). A decreased risk of oral clefts was found for XRCC3 (OR = 0.62; CI = 0.39-0.99) and hOGG1 (326 Cys/Cys, OR = 0.22; CI = 0.06-0.78). This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.

Alleles↗
PubMed2003

Atypical tongue-tie due to congenital tongue-palate fusion.

We are presenting a case report of a male neonate brought in an emergency room with feeding inability and signs of respiratory difficulty due to oral passage blockade - a developmental anomaly caused by tongue-palate fusion. Surgical correction instantly relieved respiratory distress and established the normal oral feeding mechanism.

Humans↗
PubMed1971

Tongue-tie.

Explore the source record for details and available documents.

Adult↗
PubMed1992

Laser therapy for lymphatic malformations of the upper aerodigestive tract. An evolving experience.

Lymphatic malformations of the upper aerodigestive tract can present therapeutic challenges. Symptoms associated with these lesions include bleeding, dysphagia, changes in speech, and dyspnea. Surgical therapy is recommended, which often leads to functional interference and cosmetic deformities. Laser photocoagulation of these malformations can control symptoms and may be repeated as necessary, preserving tissue and function. The results in four patients treated with the carbon dioxide laser and in five patients treated with the neodymium-YAG laser were reviewed. Reduction of bulk and improvement of symptoms were achieved in all patients, most of whom required multiple treatments. The average duration of each procedure was 30 minutes. All patients were discharged from the hospital on the same day or 1 day after laser therapy with minimal morbidity. The indications, evolving technique, and results of laser therapy are discussed.

Adolescent↗