Mondini dysplasia associated to recurrent bacterial meningitis-a clinical and imaging correlation. Rev Cubana Pediatr [online]. , vol, n.1, pp Mondini dysplasia is a type of inner ear malformation that is present at birth . Villamar M, del Castillo I, Moreno F. Sensorineural hearing loss and Mondini. Mondini malformation is a historical term used to described incomplete partition type II anomaly with large vestibular aqueduct. Terminology The term is often.
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To describe audiometric characteristics and middle and inner ear malformations in two patients with velocardiofacial syndrome. Audiometric evaluation, computerized tomography of modnini temporal bones and analysis of DNA for multiple markers of 22q11 region were performed in two patients with clinical signs of velocardiofacial syndrome. Conductive hearing loss related to chronic otites media and middle and inner ear malformations were found, the latter with the use of reformations based on multislice acquisitions on of displaaia computerized tomography of the temporal bones.
We consider it to be highly important to carry out a thorough evaluation mondibi monitoring of the hearing evolution, as well as the occurrence of symptoms related to the vestibular function in patients with velocardiofacial syndrome.
From the radiological point of view, attention should be given to the use of high quality techniques for the tomographic study of temporal bones. New phenotypic alterations of this syndrome have been described in the meantime Although considered as one of the most frequent syndromes associated with cleft palate 6it is not frequently recognized in the pediatrics practice.
It’s caused by delection of the long arm of the chromosome 22 22q Recently, middle and inner ear malformations have been described in VCFS. Patients with hearing loss associated with otitis media and with external ear malformations are described The first reference to a primary defect of the ossicular chain was made inin a child with signs of the VCFS and 22q Middle and inner ear malformations were foud in two children ee VCFS.
One of them showed a Mondini type cochlear malformation, an abnormal shape of the ossicles, with fusion of the malleus with the incus and a monopodal displsia. The other child showed a congenital middle ear malformation with fixation of the malleus on disp,asia left annulus tympanicus, and a common cavity bilaterally between the vestibule and the lateral semicircular canal This article aims at describing and characterizing the middle and inner ear malformations found in two Brazilian boys with the VCFS.
Two boys with clinical signs of VCFS, at the ages of 4. Audiological evaluation, including pure tone audiometry, timpanometry, acoustical reflex, and Computerized Tomography CT of temporal bones. In both, analyses of DNA sample with markers of 22q11 region were performed.
A Toshiba Aquilion-slice thickness 0. He was mpndini by cesarean, after a week pregnancy. He showed a submucous cleft palate, which was operated when he was 2.
The neuropsychomotor development was normal. He shows clinical signs of VCFS, without cardiac defects. The DNA sample analyses from the patient and his parents, with five markers, revealed the delection of, at least, one marker in the 22q Timpanometry was of type B and the acoustical reflex dissplasia absent bilaterally. The CT of temporal bones shows signs of bilateral inflammatory mondihi, a common cavity between the vestibule and the lateral semicircular canal monxini the right side and an assimetry of the lateral semicircular canal on the left Picture 1.
Ossicles had a normal configuration. CT showing bilateral inflammatory otomastoidopathy and a common cavity between the vestibule and the lateral semicircular canal at right arrow inA. Assimetry of the lateral semicircular canal at dw arrows in B. Axial and 3-D reconstruction showing displasia of the lateral semicircular canal arrowheads in A and B in comparison with the posterior semicircular canal double small arrows in B and globosity of the vestibule long arrows in A and B.
displasia de Mondini – English Translation – Word Magic Spanish-English Dictionary
Mild pericochlear radiolucent foci arrows in CT coronal view. Oblique CT reformation with evidence of deformity of the posterior crus of the left stapes arrow.
How to cite this article. Patient 2 is a 4. He has a third degree cousin from his mother branch, which bears a cleft palate. Born by cesarean he developed respiratory infection, hyperbilirubinemia and hypoglycemia in his 4th day of life, treated for 10 days. He had a minor delay in his motor development and a heart murmur dysfunction that was monitored by a cardiologist. He had a delay in language development dsiplasia, currently, shows a hypernasal voice and compensatory articulation errors.
The oral examination shows a hypoplastic uvula, a short palate with reduced elevation movements. He has clinical signs of the VCFS. The analyses of DNA samples from him and his parents revealed that the patient shows delection in, at least, four markers in the region 22q The audiological evaluation shows a conductive hearing loss, with air thresholds around 40 to 50dB HL on the right side and 25 to 30dB HL on the left, with normal bone dislpasia, between 0 and 10 dB HL bilaterally.
Tympanometry curve type A and absence of acoustical reflex bilaterally. CT of temporal bones shows a bilateral displasia of the lateral semicircular canals, which are dlsplasia in comparison with the posterior and superior semicircular canals, globosity of vestibules Picture 2 and 3 and mild pericochlear radiolucent foci Mpndini 4.
Deformity of the stapes was found at the left side, characterized as a kinking of the posterior crus Picture 5. This finding was only detected after an oblique reformation parallel to the stapes about 30o to 45o.
Our findings, which have already been described by others, shows that there can be also middle and inner ear malformations, along with malformations of vestibule and semicircular canal. On the other hand these primary middle and inner ear malformations in VCFS leads to dr studies about the role of the genes TBX1, in the morphogenesis of middle and inner ear From moondini clinical point of view, we consider it to be highly important to carry out a thorough evaluation and the monitoring of the hearing evolution, as well as the occurrence of symptoms related to the vestibular function, already described in children with the VCFS Monsini studies are necessary to establish whether this is a consistent morphological trait in VCFS.
From the radiological point of view, oblique reformations displasis zoom parallel to the stapes are very helpful in detecting mild deformities or incomplete crus.
Sometimes the routine axial images do not show completely the diaplasia and reformations based on multislice acquisitions are of high quality. Regarding the labyrinth, a three-dimensional reconstruction is an interesting tool for a global analysis. The syndrome of congenital shortened velum and dual innervation of the soft palate.
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Addicional eye findings in a girl with the velo-cardio-facial syndrome [letter]. Am J Med Genet. Abnormal carotid arteries in the velocardiofacial syndrome: Velocardiofacial syndrome with facia and pinna asymetries.
Braz J Med Biol Res. Retrospective diagnoses of previously missed syndromic disorders among patients with cleft lip, cleft palate, or both. Hearing loss and otitis media in velo-cardio-facial diaplasia. Int J Pediatr Otorhinolaryngol.
Otolaryngological manifestations of velocardiofacial syndrome: Primary pulmonary dysgenesis in velocardiofacial syndrome: Middle and inner ear malformations in velocardiofacial syndrome [letter]. TBX1 is required for inner ear morphogenesis. University Diploma in Phonoaudiology.
Alfredo Tabith Junior Rua Dra. Approved on March 19,