Heterogeneity in adducted thumbs sequence.
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.
Moldavsky
M
M
Abarbanel Mental Health Center, Bat-Yam, Israel.
Lerman-Sagie
T
T
Kutai
M
M
Legum
C
C
Harel
S
S
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*