Unilateral terminal aphalangia in father and daughter--exogenous or genetic cause?
Published cases of familial unilateral terminal transverse defects are scarce. We report on a morphologically similar defect of the hand in a father and his daughter. The hand anomaly is similar in both, but on the opposite side. Thalidomide was taken in the sensitive period of the pregnancy by the father's mother. To our knowledge this is the second description of unilateral terminal aphalangia in successive generations. In order to evaluate the possible genetic basis we analyze epidemiological studies in respect to the recurrence risk of cases with isolated limb reduction defects. We compare reports of familial occurrence concerning the degree of relationship as well as the pattern of malformation. The latter seems to be an important aspect from an evolutionary and a developmental viewpoint. For our observation an autosomal dominant transmission is the most likely although multifactorial determination cannot be excluded.
Institute of Human Genetics and University Children's Hospital, Charité Campus Virchow-Klinikum, Humboldt University of Berlin, Germany.
L
L
Neumann
J
J
Pelz
J
J
Kunze
D000328:Adult; D005220:Fathers; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005542:Forearm / Q000002:abnormalities; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009264:Nails, Malformed; D009679:Nuclear Family; D011247:Pregnancy; D011248:Pregnancy Complications; D013792:Thalidomide / Q000627:therapeutic use; D013933:Thumb / Q000002:abnormalities
D013792:Thalidomide