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Patent nasopalatine ducts are a rare entity, only 12 cases being reported in the English literature. Four new cases are presented, the world literature is reviewed, and possible mechanisms of formation are discussed.
A female infant with hypoglossia-hypodactyly syndrome is presented. Her mother underwent chorionic villus sampling (CVS) at 9 weeks gestation. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United States. These seven CVS-related cases represent a significant increase over this syndrome's 'natural' incidence of 1 per 175,000 live births. An excess of limb reduction deformities has also been seen following CVS. These seven cases are reviewed, and the possible etiology of this rare condition is discussed.
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Lymphatic malformations remain a therapeutic challenge. Many treatments by the past led to poor success. The wide variety of clinical presentations makes it difficult to outline specific management programs. Often, diagnosis or complication circumstances as infection, bleeding, airway obstruction, or handicap force acting. Thus, a specific follow-up joined to a multidisciplinary analysis are the key of well-planned surgery. Through our experience and a review of literature, we will describe principles of lymphatic malformations surgery and specific technics for specific locations.
Salivary gland aplasia has not to our knowledge been previously reported in association with Down syndrome. We present a case of bilateral parotid aplasia in a patient with Down syndrome. Clinically he had aplasia of the major salivary glands and symptoms of xerostomia. Thirteen other family members over three generations were examined, and all had functional parotid glands. We reviewed publications about Down syndrome and salivary aplasia, together with the data regarding his other clinical problems and family background. His oral problems were inadequate plaque control, dental caries, and erosion of the teeth.
Persistence of the buccopharyngeal membrane (BPM) also called the oropharyngeal membrane is a rare congenital oropharyngeal anomaly. We report a case of an adult aboriginal male patient with a membrane that closed his oropharyngeal isthmus except for a 2 cm diameter central perforation. The patient had no symptoms related to this membrane and no other congenital anomalies were found. This finding has not previously been reported in an adult. The embryology and management of this rare condition is discussed.
Lingual choristomas or foregut duplication cysts are infrequently reported congenital anomalies that typically present in the perinatal period, and can cause respiratory or feeding problems. These cysts are lined by epithelial cells characteristic of the upper aerodigestive tract. We describe two children who presented shortly after birth with lingual cysts lined with squamous epithelium and foci of respiratory epithelium. Unlike previously reported lingual choristomas, these cysts did not contain gastrointestinal epithelium. In both these cases, the lingual cysts were successfully excised via a transoral approach. This article will discuss the histological findings in these two cases, the differential diagnosis and attempt to classify these lesions in the context of existing terminology.
PURPOSE: Ankyloglossia ("tongue-tie") occurs in nearly 5% of neonates, but its clinical significance relating to breast-feeding difficulties is controversial. We tested the hypothesis that in infants with ankyloglossia referred because of breast-feeding difficulties, frenotomy alleviates the symptoms. METHODS: Twenty-five mothers of healthy infants with ankyloglossia were recruited because of sore nipples. Infants were randomized to either of 2 sequences: (1) frenotomy, breast-feeding, sham, breast-feeding (n = 14) or (2) sham, breast-feeding, frenotomy, breast-feeding (n = 11). The mothers as well as all personnel taking care of the child after each sham or frenotomy procedure were masked as to the study sequence. In every sequence, and after each sham or frenotomy procedure, a standardized latch score and pain score were obtained from the mother. RESULTS: There was a significant decrease in pain score after frenotomy than after sham (P = .001). There was also a nearly significant improvement in latch after the frenotomy in these mothers (P = .06). CONCLUSION: Frenotomy appears to alleviate nipple pain immediately after frenotomy. We speculate that ankyloglossia plays a significant role in early breast-feeding difficulties, and that frenotomy is an effective therapy for these difficulties.
In the Thatcher illusion, a face with inverted eyes and mouth looks abnormal when upright but not when inverted. Behavioral studies have shown that thatcherization of an upright face disrupts perceptual processing of the local configuration. We recorded high-density EEG from normal observers to study ERP correlates of the illusion during the perception of faces and nonface objects, to determine whether inversion and thatcherization affect similar neural mechanisms. Observers viewed faces and houses in four conditions (upright vs. inverted, and normal vs. thatcherized) while detecting an oddball category (chairs). Thatcherization delayed the N170 component over occipito-temporal cortex to faces, but not to houses. This modulation matched the illusion as it was larger for upright than inverted faces. The P1 over medial occipital regions was delayed by face inversion but unaffected by thatcherization. Finally, face thatcherization delayed P2 over occipito-temporal but not over parietal regions, while inversion affected P2 across categories. All effects involving thatcherization were face-specific. These results indicate that effects of face inversion and feature inversion (in thatcherized faces) can be distinguished on a functional as well as neural level, and that they affect configural processing of faces in different time windows.
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Our group developed a genetic-counselling program for boxer-dog breeders in The Netherlands, using data for cryptorchidism (uni- and/or bilateral), epilepsy, knee-problems (including ligament rupture, fractured or ruptured meniscus, severe osteo-arthrosis of the knee, or a combination of these disorders), and schisis (including cheiloschisis, palatoschisis, or cheilopalatoschisis). We transformed the estimated breeding values (EBVs) into odds ratios (ORs), to enable the breeder to compare the risk for each of the traits for a certain dam-sire combination with the average population risk (set at 1). The goal of the study was to evaluate the use of our genetic-counselling program by Dutch breeders of boxer dogs. We asked breeders of the Dutch Boxer Club to send in an application form for genetic-counselling from June 1 to December 1, 2000. Breeders indicated on this application form three desirable sires for their dam (sire 1, sire 2, sire 3) in random order. On the basis of this information, a counselling report was produced which included ORs for the four diseases in litters of the dam-sire combinations indicated on the application form. Together with the counselling report, the breeders received an evaluation form. We received 129 application forms from 70 breeders, and collected 125 evaluations. Of these evaluations, 96 were informative about the influence of the counselling report on sire choice. The most-important criteria used by breeders to select sires were: the exterior characteristics (60%) and known progeny (52%). Although it was the first time breeders could make use of genetic-counselling, 32% of the breeders indicated that the genetic-counselling played a major role in their sire selection. Breeders expressed little difference in importance for the four genetic traits, but there was a tendency to consider epilepsy more than the others. Breeders hesitated to put long-term population interest above short-term personal interest. Nevertheless, the general conclusion of this study is that breeders acknowledge the value of counselling, especially to reduce the frequency of a threatening disease such as epilepsy.
Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of dermatan sulfate in tissues and their urinary excretion. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs that often results in death in the second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic features. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. An 11-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, with special emphasis on the oral manifestations.
Ehlers-Danlos syndrome (EDS) is the name given for 6 types of connective tissue disorders. While the prevalence of this disease is small, it is seen on every continent and affects both sexes and all races. The various types of EDS are reviewed with reference given to both the older Berlin nosology and the newer Villefranche nosology. Phenotypes of EDS vary depending upon which type of collagen is altered, leading the practitioner to the diagnosis before biochemical confirmation is obtained. In this regard, because collagen is present throughout the head and neck, oral and maxillofacial manifestations of the disease are discussed and are readily noticeable to the astute dentist. Specialists in several fields of dentistry are made aware of the complications EDS can pose on treatment, healing, and follow-up care.
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We report a very rare case of congenital bilateral zygomatico-mandibular fusion with mandibular hypoplasia. Soon after birth, the patient underwent tracheotomy because of upper airway obstruction. At the age of one and a half years, reconstruction of the temporomandibular joint and lengthening of the ramus with a costochondral graft were performed. Only a few cases of congenital bony syngnathia revealed in this case have been described in the literature.
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Dysphagia in children often presents a difficult diagnostic challenge. A systematic approach in each individual can help with diagnosis and treatment. An overview of the differential diagnosis and the diagnostic and treatment options available is provided.