Autosomal dominant inheritance of adducted thumbs and other digital anomalies.
Isolated adducted thumbs is an uncommon malformation that occurs sporadically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggested in two familial cases, but this mode of inheritance has not been confirmed. Here we describe a family with adducted thumbs and other digital anomalies in which seven members (six females and one male) are affected in three consecutive generations. Additionally, the patients showed mild abnormalities of fingers 2nd-4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an autosomal dominant condition that apparently has not been previously reported.
Miranda
A
A
Servicio de Genética, Hospital General de México, Facultad de Medicina, UNAM, México, DF.
Zenteno
J C
JC
Santiago
E
E
Kofman-Alfaro
S
S
D000293:Adolescent; D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging