1/29. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1keywords = choanal atresia, choanal, atresia (Clic here for more details about this article) |
2/29. growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome.We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).- - - - - - - - - - ranking = 0.092523999563501keywords = atresia (Clic here for more details about this article) |
3/29. Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up.A patient affected by a multisystem malformation, the CHARGE association, is described. The choanal atresia is one of the stigmata characterizing this syndrome. The main anomalies of the association, the surgical correction (choanoplasty with endoscopic transnasal approach followed by the application of nasal stenting) and a comparison with different techniques are reported.- - - - - - - - - - ranking = 5keywords = choanal atresia, choanal, atresia (Clic here for more details about this article) |
4/29. Antrochoanal polyp presenting with obstructive sleep apnoea and cachexia.A rare presentation of an antrochoanal polyp is reported. A 14-year-old boy presented with obstructive sleep apnoea and subnormal growth velocity for height and weight over a 1-year period. Examination revealed a post-nasal mass which following removal was confirmed histopathologically as an antrochoanal polyp. Relief of the airway obstruction was promptly followed by catch-up growth and subsequent normal growth velocities. The possible mechanisms underlying the cachexia are explored including the possible association with the obstructive sleep apnoea.- - - - - - - - - - ranking = 2.2267647273604keywords = choanal (Clic here for more details about this article) |
5/29. A novel syndrome involving primary skeletal growth and retardation in siblings.An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.- - - - - - - - - - ranking = 0.030841333187834keywords = atresia (Clic here for more details about this article) |
6/29. temporal bone anomaly proposed as a major criteria for diagnosis of charge syndrome.The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the charge syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of charge syndrome.- - - - - - - - - - ranking = 2keywords = choanal atresia, choanal, atresia (Clic here for more details about this article) |
7/29. Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.- - - - - - - - - - ranking = 0.37112745456006keywords = choanal (Clic here for more details about this article) |
8/29. Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome.- - - - - - - - - - ranking = 0.092523999563501keywords = atresia (Clic here for more details about this article) |
9/29. Anaesthetic implications of costello syndrome.costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal). Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal papillomata and choanal atresia. A significant percentage of patients also have cardiac involvement which may manifest as congenital heart defects, arrhythmias, valvular dysfunction, or hypertrophic cardiomyopathy. central nervous system involvement includes developmental delay and seizure disorders while endocrine abnormalities have been reported including hypothalamic-pituitary dysfunction resulting in hypopituitarism, hypothyroidism, and hypoadrenalism. The authors present a 2-year old child with costello syndrome who required anaesthesia for direct laryngoscopy, rigid bronchoscopy, bilateral pressure equalization tubes and tonsillectomy. The perioperative implications of the syndrome are discussed.- - - - - - - - - - ranking = 1keywords = choanal atresia, choanal, atresia (Clic here for more details about this article) |
10/29. Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association.PURPOSE: To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma. DESIGN: Interventional/observational case report. METHOD: A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma. RESULTS: The patient underwent transpupillary diode laser of the choroidal neovascular membrane. Five months later, it and the serous retinal detachment had resolved. CONCLUSIONS: patients with CHARGE association may develop choroidal neovascular membrane with serous retinal detachments in association with optic nerve colobomas. These neovascular membranes may be treated successfully with transpupillary diode laser.- - - - - - - - - - ranking = 1keywords = choanal atresia, choanal, atresia (Clic here for more details about this article) |
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