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Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.

To investigate the postural instability and vestibular functions in children with severe inner ear malformations (IEMs).A prospective case-control study.The study group consisted of 10 children using unilateral auditory brainstem implant (ABI) with labyrinthine aplasia or rudimentary otocyst. The age-matched control groups consisted of 10 unilateral cochlear implant (CI) users with normal inner ear structures and 10 healthy peers. All tests were performed to implant users when the implants were off.All median VOR gains in the ABI group (median anterior, lateral, and posterior canal 0.15, 0.05, and 0.05, respectively, for the non-implanted sides) were significantly lower than those of the control groups (median VOR gains ≥ 0.90 in both control groups). There were no oVEMP and cVEMP responses in the study group. The mean BOT-2 balance scores of the ABI (3.70 ± 1.34) group was dramatically lower than those of the CI (9.40 ± 2.88) and healthy control (16.20 ± 4.16,The postural instability in children with severe IEMs was higher than those in CI users with normal inner ear structures and healthy peers. The level of deficiency in the labyrinthine was more important for postural stability in children.

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel&rsquo, s aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T&gt, C p.L58P, c. 284G&gt, A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations.

Cochlear implant is the method of choice in the treatment of deep sensorineural hypoacusis, particularly in patients where conventional amplification devices do not imply noticeable clinical improvement. Imaging findings are crucial in the indication or contraindication for such surgical procedure. In the assessment of the temporal bone, radiologists should be familiar with relative or absolute contraindication factors, as well as with factors that might significantly complicate the implantation. Some criteria such as cochlear nerve aplasia, labyrinthine and/or cochlear aplasia are still considered as absolute contraindications, in spite of studies bringing such criteria into question. Cochlear dysplasias constitute relative contraindications, among them labyrinthitis ossificans is highlighted. Other alterations may be mentioned as complicating agents in the temporal bone assessment, namely, hypoplasia of the mastoid process, aberrant facial nerve, otomastoiditis, otosclerosis, dehiscent jugular bulb, enlarged endolymphatic duct and sac. The experienced radiologist assumes an important role in the evaluation of this condition. O implante coclear é o método de escolha no tratamento da hipoacusia neurossensorial profunda, notadamente nos pacientes em que os aparelhos de amplificação convencionais não implicam melhora clínica notável. Achados de imagem são fatores decisórios na indicação ou contraindicação desse procedimento cirúrgico. Os fatores que contraindicam absoluta ou relativamente, assim como os que podem complicar de forma significativa o implante, devem ser familiares aos radiologistas na avaliação do osso temporal. Alguns critérios ainda são considerados contraindicações absolutas, como a aplasia do nervo coclear, a aplasia da cóclea e/ou labiríntica, apesar de já existirem relatos que questionam ou contradizem esses dois últimos. As contraindicações relativas são as displasias cocleares, destacando a labirintite ossificante. Outros achados podem ser citados como agentes complicadores na avaliação temporal, tais como hipoplasia do processo mastoideo, nervo facial aberrante, otomastoidite, otosclerose, deiscência do bulbo da jugular, alargamento dos ductos e saco endolinfático. O radiologista experiente na avaliação do osso temporal assume papel de destaque no curso dessa doença.

Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate.13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.Homozygous novel missense mutation in fibroblast growth factor 3.LAMM syndrome and hypophosphatemic rickets may be associated.

BACKGROUND AND PURPOSE: Complete labyrinthine aplasia (CLA), also referred to as Michel aplasia, is a severe congenital anomaly of the inner ear, defined by the complete absence of inner ear structures. The purpose of this study was to document the imaging findings in a series of patients with CLA, with review of the literature, to better understand this anomaly. MATERIALS AND METHODS: The CT and MR imaging findings of 9 patients (14 ears with CLA) were retrospectively evaluated. The audiologic tests and patient charts were also retrospectively reviewed. RESULTS: CLA was bilateral in 5 and unilateral in 4 patients. The petrous bone was hypoplastic in all 14 ears, but the otic capsule was aplastic in only 5. The middle ear and mastoid volumes were decreased in most of the ears. The stapes was aplastic in 1 ear and was dysplastic in 5 ears. The internal acoustic canal was aplastic in 4 ears and markedly narrowed in 10 ears. The facial nerve canal showed a variety of anomalies and aberrant courses in 11/14 ears. The bony covering of the jugular bulb was defective in 9 ears. Tegmen tympani defects were seen in 3 patients, and there were several accompanying skull base and posterior fossa anomalies. CONCLUSIONS: Although CLA is a rare developmental anomaly, its accurate diagnosis and its differential diagnosis from labyrinthine ossificans is crucial. Proper guidance of these patients for brain stem implantation in the critical period of brain development depends on the recognition of the characteristic imaging findings of CLA.

Twenty-eight cases of children with deafness or severe perceptive impairment of hearing are discussed. They are selected into two groups for the symmetrical longitudinal planigraphy of the ear, the findings of which enable us to prove a labyrinthine aplasia and to compare them with audiometric findings. Accordingly we are able to draw a definite conclusion in small children. Histological findings about congenital anomalies of the inner ear with changes in the cochlea may also be divided into two groups: 1. Complete absence of development of inner ear with labyrinth aplasia. 2. Greater or lesser aplasia in the bony part of the cochlea Subgroups: (a) classic type after Mondini; (b) partial type after Mondini.