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| http://dx.doi.org/10.7860/JCDR/2017/24346.10035 | DOI Listing |
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Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.
Ther Adv Rare Dis
October 2024
Department of Otorhinolaryngology & HNS, Leiden University Medical Centre, Leiden, The Netherlands.
Here, we describe two congenitally deaf male siblings with the same compound heterozygotic, likely pathogenic mutations in the FGF3 gene, associated with the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Both children had bilateral cochleovestibular aplasia, precluding cochlear implantation. The elder brother received an auditory brainstem implant (ABI) with very limited auditory responses.
View Article and Find Full Text PDFTwo Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Mol Syndromol
April 2021
Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to gene mutations. The vast majority of the affected individuals exhibit microcephaly, eye abnormalities, and typical facial gestalt including blepharophimosis, ptosis, telecanthus, upslanting palpebral fissures, dysplastic ears, and micrognathia. We encountered 2 siblings in whom severe psychomotor delay, distinctive facial features, hearing loss, and respiratory distress were observed.
View Article and Find Full Text PDFLAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings.
Clin Dysmorphol
April 2019
Departments of Medical Genetics.
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases.
Am J Case Rep
January 2018
Audiology Unit, Department of Clinical Science and Community Health, University of Milano, IRCCS Fondazione Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy.
BACKGROUND Implantable devices have been proposed as an alternative to hearing aids and auditory canal reconstruction in patients with microtia (congenital aural atresia), which includes a malformation of the external and middle ear. This report is of two rare cases of microtia associated with congenital stapes ankylosis treated with an implantable device and describes the treatment outcomes. CASE REPORT Two siblings from Ecuador, a 29-year-old woman, and her 35-year-old brother, were born with unilateral type II microtia with bilateral external auditory canal atresia and conductive hearing loss.
View Article and Find Full Text PDFZebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.
Hum Mol Genet
November 2017
Laboratory of Molecular Developmental Biology, State Key Laboratory of Membrane Biology, Tsinghua-Peking Center for Life Sciences, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Cell Division Cycle 6 (Cdc6) is a component of pre-replicative complex (preRC) forming on DNA replication origins in eukaryotes. Recessive mutations in ORC1, ORC4, ORC6, CDT1 or CDC6 of the preRC in human cause Meier-Gorlin syndrome (MGS) that is characterized by impaired post-natal growth, short stature and microcephaly. However, vertebrate models of MGS have not been reported.
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