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PubMed · 9128927

Heterogeneity in adducted thumbs sequence.

M Moldavsky·T Lerman-Sagie·M Kutai·C Legum·S Harel
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Abstract

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

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Abnormalities, MultipleFoot Deformities, CongenitalHumansInfantIntellectual DisabilityMaleMicrocephalyThumbToesCase ReportsJournal ArticleReview

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M Moldavsky, T Lerman-Sagie, M Kutai, C Legum, S Harel. 1997-05-16. Heterogeneity in adducted thumbs sequence.. https://pubmed.ncbi.nlm.nih.gov/9128927/

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