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PubMedDate not supplied

Open chemical combustions resulting in a local increased incidence of orofacial clefts.

HYPOTHESIS: The open chemical combustions in Zeeburg, Amsterdam, The Netherlands, during the years 1961 up to and including 1969, resulted in a local increased incidence of orofacial clefts during this period. STUDY: A retrospective observational epidemiological study was performed, comparing the trend of the incidence of non-syndromal orofacial clefts during the sixties, for the Zeeburg maternity with that of the Wilhelmina Gasthuis. Both clinics were situated in Amsterdam, but varying in distance and compass direction from the incineration works. Thereafter, the addresses of the mothers giving birth to infants with orofacial clefts were plotted on a map of Amsterdam. RESULTS: Of the 8803 children born in the Zeeburg clinic during this period, 21 had a non-syndromal orofacial cleft, producing an average incidence of 2.4 per 1000 births. For the years 1963 through 1965 the incidence rose dramatically to peak at 7.1 per 1000, before plateauing at an average incidence of 1.68 per 1000 births, still 155% higher than in the Wilhelmina clinic (average incidence of 0.66 per 1000 during the years 1966 through 1969). During the 10 year period the Wilhelmina clinic exhibited no such rise. The incidence of non-syndromal orofacial clefts at the Wilhelmina clinic at no time exceeded 2.3 per 1000 births during the 10 year period. The addresses of the mothers of the Zeeburg clefts were grouped primarily to the northwest (and a smaller group to the west) of the incineration works. CONCLUSION: A relation between the open incineration of the chemicals and a local increased incidence of orofacial clefts seems very likely.

Air Pollutants↗
PubMed2003

Exposure to 17 alpha-ethinylestradiol and bisphenol A--effects on larval moulting and mouthpart structure of Chironomus riparius.

The effects of the endocrine-disrupting chemicals 17alpha-ethinylestradiol (EE) and bisphenol A (BPA) on the development of the aquatic life-cycle stages (eggs to pupa) of Chironomus riparius were investigated. The test species was exposed to sublethal concentrations of EE and BPA (10 ng/L-1mg/L) and effects on larval weight and moulting success were recorded. In addition, three mouthpart structures (mentum, mandibles, and pecten epipharyngis) present on the head capsules of fourth-instar larvae were examined for structural deformities. Moulting was delayed and larval wet weight significantly reduced (P<0.05) at the highest treatment concentration (1mg/L) of both chemicals. No significant effect on either of these parameters was noted in the remaining treatments. However, deformities in the mouthparts of C. riparius were observed at very low exposure concentrations (10 ng/L), although the incidence of deformities was greater in the chironomids exposed to EE than BPA. Effects were mainly associated with the mentum, with statistically significant differences in median deformity score (Kruskal-Wallis P<0.001) recorded for both chemicals. At similar effect concentrations, an increased percentage of exposed animals had deformities of the pecten epipharyngis; however, little evidence of deformity was noted for the mandibles. At high concentrations, where moulting and wet weight were affected, no incidence of mouthpart deformity was noted. The relevance of these results in relation to the identification of an "endocrine-sensitive" endpoint for invertebrates is discussed.

Animals↗
PubMed1998

A recessively inherited non-lethal form of popliteal pterygium syndrome.

Two siblings, a 10-year-old boy and a 6-month-old girl, born in a Palestinian family, with manifestations of popliteal pterygium syndrome are presented. This rare form of syndrome is usually assumed to be autosomal dominant. Parental consanguinity and lack of phenotype manifestation in the ancestry of the present family favoured an interpretation of determination by an autosomal recessive trait.

Cleft Palate↗
PubMed1990

The midline: diagnosis and treatment.

The importance of coordinated midlines often is unappreciated as it relates to the treatment plan for the orthodontic case. All three of the patient's midlines--facial, maxillary, and mandibular--must be considered if ideal correction is to be achieved. Proper differential diagnosis of the cause will allow the practitioner to appropriately use either inter- or intraarch mechanics for the resolution of midline discrepancies. Midline correction should be undertaken from the initiation of treatment and once all midlines are coordinated they should be maintained as a guide for any further force systems used in completing the case. Functional, dental, and iatrogenic midline discrepancies are discussed pertaining to their diagnosis and treatment.

Diagnosis, Differential↗
PubMed1996

A clinical study of the craniofacial features in Apert syndrome.

A clinical study of the craniofacial features in Apert syndrome is based on our experience with 136 cases. Characteristics included hyperacrobrachycephaly, steep wide forehead, flat occiput, common craniofacial asymmetry, ocular hypertelorism and proptosis, downslanting palpebral fissures, divergent upgaze and esotropic downgaze, a tendency towards large ears, and marked depression of the nasal bridge. The nose is short and wide with a bulbous tip, and the anterior facial height is reduced. Common features during infancy included horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoidal-shaped mouth at rest. Radiographic aspects of Apert syndrome were also assessed. Tables are provided which compare the craniofacial features of Apert and Crouzon syndromes.

Acrocephalosyndactylia↗
PubMed1999

Salivary gland aplasia with cleft lip and palate: a case report and review of the literature.

We report the case of a patient with lifelong symptoms of xerostomia and a repaired bilateral cleft lip and palate. The clinical evaluation demonstrated aplasia of the major salivary glands. A review of the literature pertaining to salivary gland aplasia is presented, along with a summary of the data regarding patient gender, defect sites, hereditary background, and combined manifestations. The diagnostic methods, possible pathogenesis, and management are also discussed.

Child, Preschool↗
PubMed1985

Twin studies in craniofacial genetics: a review.

A review of the literature on twin studies in craniofacial genetics is presented. The following areas are particularly dealt with: tooth form and size, tooth formation and eruption, dental arch and occlusion, facial form and size, and cleft lip and palate.

Cleft Lip↗
PubMed2003

Chironomidae (Diptera, Nematocera) fauna in three small streams of Skania, Sweden.

Two unpolluted streams and one chemically and thermally polluted stream in Skania, Sweden, were investigated in summer 1995 for their temporary chironomid fauna and the occurrence of buccal deformities. The unpolluted streams 'Ovedsan' and 'Skäralidbäcken' each contained, respectively, 13 and 16 taxa, with a dominance of Microtendipes pedellus group and Micropsectra spp., respectively. Most taxa were found in the pebbles and the submerged vegetation. Deformities were insignificant. The degraded stream Ybbarpsan in Perstorp contained 5 taxa, dominated by Procladius choreus. This species had 14% deformed larvae, interpreted as an effect of the chemical pollution. Shannon H and equitability J reflected the differences in chironomid community structure between the two unpolluted and the polluted sites. The Belgian Biotic Index scored maximally '10' in Skäralid, however only '6' in Oved and '5' in Perstorp. The combination of rapid assessment of macrobenthos and description of communities of Chironomidae, with mention of deformed larvae, adds a bonus of information about the temporary state of a stream.

Animals↗
PubMed2006

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.

The epidermis is a highly organized structure, the integrity of which is central to the protection of an organism. Development and subsequent maintenance of this tissue depends critically on the intricate balance between proliferation and differentiation of a resident stem cell population; however, the signals controlling the proliferation-differentiation switch in vivo remain elusive. Here, we show that mice carrying a homozygous missense mutation in interferon regulatory factor 6 (Irf6), the homolog of the gene mutated in the human congenital disorders Van der Woude syndrome and popliteal pterygium syndrome, have a hyperproliferative epidermis that fails to undergo terminal differentiation, resulting in soft tissue fusions. We further demonstrate that mice that are compound heterozygotes for mutations in Irf6 and the gene encoding the cell cycle regulator protein stratifin (Sfn; also known as 14-3-3sigma) show similar defects of keratinizing epithelia. Our results indicate that Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch and that Irf6 and Sfn interact genetically in this process.

14-3-3 Proteins↗
PubMed2005

Congenital alveolar synechiae - a case report.

Congenital alveolar synechiae is rarely seen as an isolated disease. It is generally observed together with various syndromes such as Van der Woude and cleft palate lateral alveolar synechiae syndrome, and is concomitant with other anomalies in the maxillofacial or other regions of the body. Prior to this case report , eight cases of isolated congenital alveolar synechiae have been reported. This paper reports a case of isolated congenital alveolar synechiae in a 10-month-old baby girl. The report concentrates on the clinical features of isolated congenital alveolar synechiae, the likely aetiological causes and the treatment.

Alveolar Process↗
PubMed2001

Orofacial findings in the Klippel-Trénaunay syndrome.

The Klippel-Trénaunay syndrome is a triad of congenital anomalies characterised by haemangiomas, varicosities, and unilateral bony and soft tissue hypertrophy. Hypertrophy usually affects one distal limb, but trunk or face may be affected. Cutaneous haemangiomas (nevus flammeus) of varying extent and irregular contour are often present in the hypertrophic regions. Varicosities may also be part of the vascular lesions of the syndrome. Orofacial manifestations include facial asymmetry, jaw enlargement, and malocclusions as well as premature tooth eruption. Two cases of the Klippel-Trénaunay syndrome are presented here. Both of these show the typical hemifacial hypertrophy and premature eruption of teeth on the affected side. In the first case only the left mandibular region was affected. In contrast, in the second there was hypertrophy of the whole left side of the body including upper and lower jaws. This boy also suffers from congenital ideokinetic retardation, while the first was otherwise normal. Both cases differ from previously reported cases of the Klippel-Trénaunay syndrome in lacking any prominent facial nevus flammeus. In the first case there was also malformation of the crown of the first permanent molar on the affected side that has not been described previously.

Child↗