Kallmann syndrome associated with choanal atresia.
Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is though to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.
D000328:Adult; D002754:Choanal Atresia / Q000150:complications / Q000196:embryology / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000196:embryology / Q000235:genetics*; D000857:Olfaction Disorders / Q000150:complications / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome