Document

Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication : a case report.

Identifier
DOI 10. 5001/omj.2012.34
Publisher
Oman Medical Specialty Board.
Gregorian
2012-03
Language
English
English abstract
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensorimotor polyneuropathy, tremor, ataxia, sensorineural hearing-loss, and hypothyroidism in the 27 years-old index case, as mild facial dysmorphism, muscle cramps, tinnitus, intention tremor, bradydiadochokinesia, and sensorimotor polyneuropathy in the 31 year-old half-brother of the index-patient, and as sensorimotor polyneuropathy and foot deformityin the father of the two. The half-brother additionally presented with hypertelorism, not previously reported in PMP22tandem-duplication carriers. The presented cases show that the tandem-duplication 17p11.2 may present with marked intra-familialphenotype variability and that mild facial dysmorphism with stuck-out ears and hypertelorism may be a rare phenotypic feature of this mutation. The causal relation between facial dysmorphism and the PMP22 tandem-duplication, however, remains speculative.
Member of
Citation
Finsterer, Josef (2012). Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication : a case report. Oman Medical Journal, 27 (2), 164-167.
Category
Journal articles

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Finsterer, Josef.
Oman Medical Specialty Board.
2018-09

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