title: Genetic counseling of a couple presenting respectively terminal transverse defects and congenital arthrogryposis.
abstract: A 29-year-old woman consulted together with her husband for a problem of congenital joint contractures. Clinical findings in the woman were characteristic of "amyoplasia congenita". In view of the severe distal limb involvement, the possibility of a distal arthrogryposis was also considered. Unexpectedly, the husband presented terminal transverse defects, mainly of the feet, suggestive of Adams-Oliver syndrome, an autosomal dominant condition with variable expression. This discovery significantly altered the counseling given to the couple, i.e. they had to be given a high recurrence risk for congenital limb malformations in their offspring and rigorous echographic monitoring of future pregnancies was advised.
authors.affiliation: Center for Medical Genetics, University Hospital Gent, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: S
authors.initials: S
authors.lastname: De Bie
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003878:Dermatoglyphics; D005260:Female; D005817:Genetic Counseling / Q000379:methods / Q000639:trends; D006801:Humans; D017880:Limb Deformities, Congenital; D009460:Neurologic Examination; D011247:Pregnancy; D014965:X-Rays