Genetic counseling in limb reduction defects.
During several years experience in a multidisciplinary out-patient clinic for children with congenital hand malformations a systematic approach was devised to arrive at an accurate diagnosis and recurrence risk in patients with congenital limb reduction defects. Classification and diagnostic work-up was done according to a protocol, derived from data in the literature and from our own experience. This protocol is described for the different types of congenital upper limb reduction defects.
Cobben
J M
JM
Department of Rehabilitation Medicine, University Hospital, Groningen, The Netherlands.
Hiemstra
S
S
Robinson
P H
PH
D004480:Ectromelia / Q000145:classification / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital / Q000145:classification / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D012307:Risk Factors