1/298. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/298. A serious anaesthetic complication of a Lefort I osteotomy.We report a case of surgical transsection of the nasoendotracheal tube during a Lefort I maxillary osteotomy, resulting in severe intra-operative ventilatory difficulties. The management of this problem and a brief review of the literature are presented.- - - - - - - - - - ranking = 0.00087746419856454keywords = ring (Clic here for more details about this article) |
3/298. Anesthetic considerations of two sisters with beckwith-wiedemann syndrome.Anesthetic considerations of 21-mo-old and 4-yr-old sisters with beckwith-wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.- - - - - - - - - - ranking = 0.0017549283971291keywords = ring (Clic here for more details about this article) |
4/298. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.- - - - - - - - - - ranking = 0.00087746419856454keywords = ring (Clic here for more details about this article) |
5/298. Computer-aided surgery in distraction osteogenesis of the maxilla and mandible.When using unidirectional intraoral distraction devices, it is desirable to be able to determine the final position of the bone fragment after the distraction procedure. However, additional constraining forces from adjacent tissues render the prediction of the distraction direction difficult. We have utilised computer-aided surgery in three patients for intraoperative control of the distraction direction. In one cleft palate patient, suffering from maxillary hypoplasia and anterior open bite, a modified Le Fort I osteotomy and maxillary distraction was performed. Despite a ventrocaudal position of the distraction device, intraoperative computer visualisation showed an unfavourable caudal vector of distraction without any anterior movement. The final result confirmed the direction indicated by the computer. Maxillary advancement remained insufficient. In two patients suffering from mandibular hypoplasia, intraoperative assessment revealed a favourable direction of distraction. The distraction procedure led to a satisfactory result in both cases. Computer-aided surgery is helpful in assessing the vector of distraction intraoperatively, making the result of the distraction procedure more predictable and allowing instant correction by adequate reapplication of the device.- - - - - - - - - - ranking = 0.0017549283971291keywords = ring (Clic here for more details about this article) |
6/298. Results with sphincter pharyngoplasty and pharyngeal flap.OBJECTIVE: To evaluate speech outcomes and complications of sphincter pharyngoplasty and pharyngeal flap performed for management of velopharyngeal insufficiency (VPI). DESIGN: Case series. SETTING: Tertiary care children's hospital. patients: All patients who underwent pharyngeal flap or sphincter pharyngoplasty from 1990 to 1995. methods: Perceptual speech analysis was used to assess severity of VPI, presence of nasal air emissions and quality of nasal resonance (hyper, hypo, or normal). Pre-operative measures of velopharyngeal function were based upon nasendoscopy and videofluoroscopic speech assessment. Recommendations for management were made by the attending surgeon. Complications of hyponasality and obstructive sleep symptoms (OSS) were noted. Patient characteristics were compared using univariate analysis. RESULTS: Sixteen patients underwent sphincter pharyngoplasty and 18 patients underwent superiorly based pharyngeal flap. patients were similar in terms of lateral pharyngeal wall medial motion and palatal elevation. The groups were also similar with regard to VPI severity, though there was a trend for more severe VPI in patients undergoing sphincter pharyngoplasty than pharyngeal flap (50 vs. 33.3%, respectively). patients with pharyngoplasty had a higher rate of resolution of VPI than those who had pharyngeal flap (50 vs. 22.2%, respectively), although this was not statistically significant. Post-operative hyponasality and obstructive sleep symptoms were present in both groups. However, only patients who underwent PF and had postoperative OSS had obstructive sleep apnea (OSA). CONCLUSIONS: There were no detectable anatomic differences between treatment groups implying that treatment selection during the study period was not guided by strict anatomic criteria. Sphincter pharyngoplasty may have a higher success rate with a lower risk of OSS.- - - - - - - - - - ranking = 0.00087746419856454keywords = ring (Clic here for more details about this article) |
7/298. Increased occurrence of cleft lip in glycogen storage disease type ii (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.Genetic deficiency of lysosomal acid alpha-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type ii (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle. During an earlier review we noted 3 in 100 cases of GSDII with incidental description of cleft lip. In addition, we identified 2 of 35 GSDII patients referred to us for molecular studies with co-occurence of cleft lip, considerably greater than the estimated frequency of nonsyndromic cleft lip with or without cleft palate of 1 in 700 to 1,000. Because several lines of evidence support a minor cleft lip/palate (Cl/P) locus on chromosome 17q close to the locus for GSDII, we defined the molecular basis for the GSDII in these two patients to determine if they represented a contiguous gene syndrome. Patient I (of Dutch descent) was homozygous and the parents heterozygous for an intragenic deletion of exon 18 (deltaex18), common in Dutch patients. Patient II was heterozygous for delta525T, a mutation also common in Dutch patients and a novel nonsense mutation (172 [corrected] C-->T; Gln58Stop) in exon 2, the first coding exon. The mother was heterozygous for the delta525T and the father for the 172 [corrected] C-->T; Gln58Stop. The finding that both patients carried intragenic mutations eliminates a contiguous gene syndrome. Whereas the presence of cleft lip/cleft palate in a patient with GSDII could be coincidental, these co-occurences could represent a modifying action of acid alpha-glucosidase deficiency on unlinked or linked genes that result in increased susceptibility for cleft lip.- - - - - - - - - - ranking = 0.50087746419856keywords = chromosome, ring (Clic here for more details about this article) |
8/298. A locus for isolated cleft palate, located on human chromosome 2q32.We present evidence for the existence of a novel chromosome 2q32 locus involved in the pathogenesis of isolated cleft palate. We have studied two unrelated patients with strikingly similar clinical features, in whom there are apparently balanced, de novo cytogenetic rearrangements involving the same region of chromosome 2q. Both children have cleft palate, facial dysmorphism, and mild learning disability. Their karyotypes were originally reported as 46, XX, t(2;7)(q33;p21) and 46, XX, t(2;11)(q33;p14). However, our molecular cytogenetic analyses localize both translocation breakpoints to a small region between markers D2S311 and D2S116. This suggests that the true location of these breakpoints is 2q32 rather than 2q33. To obtain independent support for the existence of a cleft-palate locus in 2q32, we performed a detailed statistical analysis for all cases in the human cytogenetics database of nonmosaic, single, contiguous autosomal deletions associated with orofacial clefting. This revealed 2q32 to be one of only three chromosomal regions in which haploinsufficiency is significantly associated with isolated cleft palate. In combination, our data provide strong evidence for the location at 2q32 of a gene that is critical to the development of the secondary palate. The close proximity of these two translocation breakpoints should also allow rapid progress toward the positional cloning of this cleft-palate gene.- - - - - - - - - - ranking = 3keywords = chromosome (Clic here for more details about this article) |
9/298. Biomechanical considerations in distraction of the osteotomized dentomaxillary complex.The completely osteotomized dentomaxillary complex is essentially a free body constrained only by its soft tissue attachments. Therefore the line of action and point of application of any protractive force(s) used during distraction osteogenesis must be considered relative to its center of mass. This is in contrast to the nonsurgically separated dentomaxillary complex, which is a constrained body, and therefore the application of protractive force(s) must be considered relative to its center of resistance. These two centers are not coincident. With knowledge of the location of the center of mass, predictable protraction of the dentomaxillary complex can be achieved. In this study, the center of mass of an adult maxillary specimen osteotomized to emulate a Le Fort I osteotomy was determined. Protractive force(s) through the center of mass will produce linear advancement along its line of action. Protractive movement of the dentomaxillary complex can be adjusted downward and forward or upward and forward by locating the protractive force(s) line of action superior or inferior to the center of mass. A cleft patient is described wherein the surgically separated dentomaxillary complex is protracted downward and forward with a force vector superior to its approximate center of mass. This results in a predictable increase in overbite and overjet with negligible mandibular rotation.- - - - - - - - - - ranking = 0.00087746419856454keywords = ring (Clic here for more details about this article) |
10/298. Two sibs with Malpuech syndrome.We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.- - - - - - - - - - ranking = 0.00087746419856454keywords = ring (Clic here for more details about this article) |
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