1/41. Epignathus teratoma: report of three cases with a review of the literature.Three cases of epignathus teratoma associated with other midline anomalies are reported. The first case involved Pierre Robin sequence and a bifid tongue. The second case was characterized by two teratomas, a meningoencephalocele, and a cleft lip and nose. The third case had Pierre Robin sequence associated with duplication of the pituitary gland and hypoplasia of the corpus callosum.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
2/41. Beyond Pierre Robin sequence.The label Pierre Robin sequence is given to infants presenting with a triad of specific congenital anomalies: micrognathia, glossoptosis, and cleft palate. However, this label should be considered the first, not the final, step in the diagnostic process. In approximately 80 percent of newborns with Pierre Robin sequence, the triad of anomalies is part of an underlying genetic condition. This article reviews the variable etiologies of and general clinical considerations for Pierre Robin sequence. To illustrate how clinical management might vary based on the identification of an underlying condition, three case examples of neonates with Pierre Robin sequence and different underlying genetic conditions are presented.- - - - - - - - - - ranking = 31.420875064614keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
3/41. Orthodontic treatment for a patient with Pierre-Robin sequence complicated by juvenile periodontitis.OBJECTIVE: To arrest the advancement of periodontitis. PATIENT: A 17-year-old boy diagnosed with Pierre-Robin sequence at birth exhibited localized juvenile periodontitis. Severe bone loss and mobile teeth were localized in the incisors and molars, which were irregularly positioned, possibly associated with a residual scar from palatoplasty for a soft palate cleft at an early age. CONCLUSION: Combined orthodontic-periodontic-prosthodontic treatment arrested the advancement of the periodontitis and established a stable occlusion.- - - - - - - - - - ranking = 2.2509005970179keywords = palate, cleft (Clic here for more details about this article) |
4/41. cleft palate in a patient with Williams' syndrome.cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.- - - - - - - - - - ranking = 37.675378049704keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
5/41. Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.Pierre Robin sequence (PRS) consists of the nonrandom association of micrognathia, cleft palate (CP), and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS, and the rare observations of familial nonsyndromic PRS, in which some of the affected individuals have isolated CP. We report the association of PRS with deletion 2q32.3-q33.2 due to an unbalanced reciprocal translocation 46,XX, t(2;21), del 2(q32.3q33.2), and we refine the deletion interval with regard to YAC probes and polymorphic dna markers. The deletion was shown to be flanked by D2S369 (telomeric) and D2S315 (centromeric), thus it maps to a recently determined chromosomal region known to be nonrandomly associated with CP. This observation supports the hypothesis for the genetic bases of nonsyndromic PRS, strengthens its possible genetic association with isolated CP, and provides a candidate PRS locus, in chromosomal region 2q32.3-q33.2.- - - - - - - - - - ranking = 31.420875064614keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
6/41. airway obstruction following palatoplasty: analysis of 247 consecutive operations.OBJECTIVE AND methods: Between February 1987 and September 1997, 247 patients underwent primary repair of a cleft of the secondary palate by one surgeon, using the double-opposing Z-plasty (Furlow) technique. This retrospective study reviews perioperative and postoperative airway compromise among these patients. The purposes of this study were to identify factors associated with airway obstruction following palatoplasty and to analyze the management of those patients. Although infants experiencing airway problems following Wardill-Kilner and Von Langenbeck palatoplasty have been described, airway complications in a group of Furlow repair patients has not been previously reported. RESULTS: Fourteen patients (5.7%) had airway problems. The average age of these patients was 18 months, which was not significantly different from those without airway problems. airway obstruction occurred as late as 48 hours after the completion of surgery. Twelve of the 14 patients had severe airway compromise requiring continued postoperative intubation, reintubation, or tracheostomy (one). There were no deaths. Thirteen of the 14 patients with postoperative airway problems (93%) had other congenital anomalies in addition to clefting, a named congenital disorder, or both. Seven of those 13 had Pierre Robin sequence. In contrast, only 40 of the 233 patients without airway problems (17%) had additional congenital anomalies or named disorders. Presence of other congenital anomalies was associated with a significantly increased risk of airway obstruction (p =.005). CONCLUSION: patients with cleft palate with the Pierre Robin sequence or other additional congenital anomalies had an increased risk of airway problems following palatoplasty. awareness of this risk permits identifying those patients prior to surgery so that they can be monitored and managed appropriately, minimizing the likelihood of major complications or death.- - - - - - - - - - ranking = 34.671775661632keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
7/41. The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.- - - - - - - - - - ranking = 158.10437532307keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
8/41. Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.- - - - - - - - - - ranking = 39.671775661632keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
9/41. Fetal hydrocolpos leading to Pierre Robin sequence: an unreported effect of oligohydramnios sequence.The presence of distal atretic vagina causing accumulation of fluid and mucus secretions in the proximal vaginal cavity resulted in fetal hydrocolpos. Obstructive uropathy developed gradually because of direct compression of hydrocolpos on bilateral lower ureters, resulting in oligohydramnios from decreased urine formation. oligohydramnios inhibited normal mandibular development with resulting cleft palate and glossoptosis (Pierre Robin Sequence). The development of sequence of events in this case indicates Pierre Robin Sequence as another effect of oligohydramnios Sequence arising out of deformational forces acting on cranio-facial structures.- - - - - - - - - - ranking = 31.420875064614keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
10/41. Pierre-Robin syndrome associated with Chiari type I malformation.CASE REPORT: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. RESULT AND CONCLUSION: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.- - - - - - - - - - ranking = 2.2509005970179keywords = palate, cleft (Clic here for more details about this article) |
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