Kallmann syndrome associated with choanal atresia

Autor:	Victor R. Klein, Jan M. Friedman, Gail S. Brookshire, Orval E. Brown, Clare D. Edman
Rok vydání:	2008
Předmět:	Adult medicine.medical_specialty Pediatrics Kallmann syndrome business.industry Hypogonadism Anosmia Syndrome Choanal atresia medicine.disease Choanal Atresia Pedigree Olfaction Disorders Endocrinology Hypogonadotropic hypogonadism Internal medicine Atresia otorhinolaryngologic diseases Genetics medicine Humans Female medicine.symptom business Genetics (clinical)
Zdroj:	Clinical Genetics. 31:224-227
ISSN:	1399-0004 0009-9163
Popis:	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:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37377b04e0295734d71c84ee68f8bf4f https://doi.org/10.1111/j.1399-0004.1987.tb02800.x Zobrazit plný text záznamu Plný text