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fanconi anemia/surdez
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Hearing loss and speech perception in noise difficulties in Fanconi anemia.
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Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this disorder. In addition, Fanconi anemia patients often complain about hearing difficulties in situations with background noise (speech perception in
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
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The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC),
Otologic manifestations of Fanconi anemia.
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OBJECTIVE
To identify and define the otologic manifestations in patients with Fanconi anemia.
METHODS
Retrospective case series.
METHODS
Tertiary referral center.
METHODS
Sixty-nine patients in all age groups who received a diagnosis of Fanconi anemia with or without otologic
Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients
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Background: Brain atrophy, abnormal pituitary morphology, corpus callosum, and posterior fossa abnormalities have been described in patients with Fanconi anemia (FA). We aimed to provide an overview of cranial neuroimaging findings and to
A Japanese patient with RAD51-associated Fanconi anemia.
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RAD51 is the only identified autosomal dominant gene to date causative of Fanconi anemia (FA) due to dominant negative effects. Only two patients with RAD51-associated FA have been reported with atypical FA phenotypes without bone marrow failure. We describe a new Asian patient with a novel RAD51
Oculoauriculovertebral spectrum with radial anomaly in child.
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Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the
Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
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Gorlin syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, medulloblastomas, ovarian fibromas, and a variety of developmental defects. All affected individuals share certain key features, but there is significant phenotypic variability within and among
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
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We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed
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