TY - JOUR T1 - The Aase syndrome in a female infant. JF - Journal of Medical Genetics JO - J Med Genet SP - 484 LP - 486 DO - 10.1136/jmg.15.6.484 VL - 15 IS - 6 AU - M C Higginbottom AU - K L Jones AU - F H Kung AU - T K Koch AU - J L Boyer Y1 - 1978/12/01 UR - http://jmg.bmj.com/content/15/6/484.abstract N2 - 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 anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology. ER -