HETEROGENEITY IN ADDUCTED THUMBS SEQUENCE

We report on a boy with adducted thumbs, microcephaly, swallowing diff iculties, hypotonia, and severe mental retardation, but without cranio stenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented i rregular-shaped and swollen mitochondriae, but results of mitochondria l function tests were normal. The clinical findings were consistent wi th a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence. (C ) 1997 Wiley-Liss, Inc.