The adducted thumbs syndrome

Autor: P. M. Conneally, Joe C. Christian, Jans Muller, P. A. Andrews
Rok vydání: 2008
Předmět:
Zdroj: Clinical Genetics. 2:95-103
ISSN: 1399-0004
0009-9163
DOI: 10.1111/j.1399-0004.1971.tb00262.x
Popis: Four children with similar anomalies inclucling cleft palate, arthrogryposis, craniostenosis, swallowing difficulties, and microcephaly are presented. Three of the four are Amish and trace back to a single pair of common ancestors. Neuropathological studies of one affected infant, who died at 18 days of age, revealed dysmyelination with excessive myelin-dependent gliosis, myelin solubilization, and transient formation of phospholipid-containing plaques on the surface of the central nervous system during formalin fixation. All four affected individuals had thumbs flexed and adducted across the palms, leacling to the suggestion that “Adducted Thumbs Syndrome” be used to identify this autosomal recessive disease until the basic genetic defect is further characterized.
Databáze: OpenAIRE
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