Literature DB >> 3594930

Kallmann syndrome associated with choanal atresia.

V R Klein, J M Friedman, G S Brookshire, O E Brown, C D Edman.   

Abstract

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.

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Year:  1987        PMID: 3594930     DOI: 10.1111/j.1399-0004.1987.tb02800.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

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Authors:  M M Lemmerling; B D Vanzieleghem; G R Mortier; I J Dhooge; M F Kunnen
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2.  Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: presentation of an unusual case.

Authors:  M Tasar; U Bozlar; S Yetiser; E Bolu; A Tasar; E Gonul
Journal:  J Endocrinol Invest       Date:  2005-11       Impact factor: 4.256

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Authors:  Catherine Dodé; Jean-Pierre Hardelin
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

4.  Syndromes associated with holoprosencephaly.

Authors:  Paul Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

5.  New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

Authors:  Agnieszka Gach; Iwona Pinkier; Urszula Wysocka; Kinga Sałacińska; Dominik Salachna; Maria Szarras-Czapnik; Aleksandra Pietrzyk; Agata Sakowicz; Anna Nykel; Lena Rutkowska; Magda Rybak-Krzyszkowska; Magda Socha; Aleksander Jamsheer; Lucjusz Jakubowski
Journal:  Arch Med Sci       Date:  2020-09-18       Impact factor: 3.318

  5 in total

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