This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely etiology.
|Original language||English (US)|
|Number of pages||3|
|Journal||Journal of medical genetics|
|State||Published - Dec 1 1978|
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