Kallmann syndrome associated with choanal atresia.

Autor: Klein VR, Friedman JM, Brookshire GS, Brown OE, Edman CD
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 1987 Apr; Vol. 31 (4), pp. 224-7.
DOI: 10.1111/j.1399-0004.1987.tb02800.x
Abstrakt: 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.
Databáze: MEDLINE