Abstract
A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Brain / diagnostic imaging
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Child
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Chromosome Deletion*
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Chromosomes, Human, Pair 6*
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Demyelinating Diseases / diagnosis
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Demyelinating Diseases / diagnostic imaging
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Demyelinating Diseases / genetics*
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Demyelinating Diseases / pathology
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Eye Abnormalities / diagnosis
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Eye Abnormalities / diagnostic imaging
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Eye Abnormalities / genetics*
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Eye Abnormalities / pathology
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Forkhead Transcription Factors / genetics
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Hearing Loss, Sensorineural / diagnosis
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Hearing Loss, Sensorineural / diagnostic imaging
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Hearing Loss, Sensorineural / genetics*
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Hearing Loss, Sensorineural / pathology
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Heart Septal Defects, Atrial / diagnosis
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Heart Septal Defects, Atrial / diagnostic imaging
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Heart Septal Defects, Atrial / genetics*
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Heart Septal Defects, Atrial / pathology
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Humans
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Male
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Tomography, X-Ray Computed
Substances
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FOXC1 protein, human
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FOXF2 protein, human
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Forkhead Transcription Factors
Supplementary concepts
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Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss