[Genetic counseling of acrocephalosyndactylia].
The present paper describes a case with clinical and radiological characteristics of Apert's syndrome. He was the first offspring from second cousins marriage. We considered that in this case, consanguinity is an associated feature. Perhaps this case may be the third one reported in the literature with consanguineous parents. We comment the different classifications of the acrocephalosyndactylias for genetic counseling purposes.
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D001132:Arm / Q000000981:diagnostic imaging; D003241:Consanguinity; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography
El asesoramiento genético en las acrocefalosindactilias.