[Variants of radial hemimelia with and without vitium cordis (Holt-Oram syndrome) in 2 families].
In two families radial hemimelia is inherited as a dominant trait. The first proposita suffered from bilateral radial aplasia, the 2nd propositus exhibited (pseudo)phocomelia. In this case the diagnosis was Holt-Oram-syndrome. The affected mothers showed unilateral hypoplasia of the thumb only. Cases like these ones are likely to be overlooked or misinterpreted. The recurrence risk is 50%. Similar observations are quoted. The cause of "variable expressivity" is unknown.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg.
Böwing
B
B
Deeg
K H
KH
D002648:Child; D003878:Dermatoglyphics; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*
Varianten der radialen Hemimelie mit und ohne Vitium cordis (Holt-Oram-Syndrom) in zwei Familien.