title: Heterogeneity in adducted thumbs sequence.
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.
authors.affiliation: Abarbanel Mental Health Center, Bat-Yam, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Moldavsky
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: M
authors.initials: M
authors.lastname: Kutai
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: S
authors.initials: S
authors.lastname: Harel
mesh_terms: D000015:Abnormalities, Multiple; D005532:Foot Deformities, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D013933:Thumb / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*