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arhinia-choanal atresia-microphthalmia syndrome
MIM.603457
Tuesday 24 April 2007
Synopsis
arhinia
choanal atresia
microphthalmia
cleft palate
severe hypoplasia of the nose and eyes
palatal abnormalities
deficient taste and smell
inguinal hernias
hypogonadotropic hypogonadism with cryptorchidism
normal intelligence
References
Graham, J. M., Jr.; Lee, J. : Bosma arhinia microphthalmia syndrome. Am. J. Med. Genet. 140A: 189-193, 2006.
Shino, M.; Chikamatsu, K.; Yasuoka, Y.; Nagai, K.; Furuya, N. : Congenital arhinia: a case report and functional evaluation. Laryngoscope 115: 1118-1123, 2005. PubMed ID : 15933534
Thiele, H.; Musil, A.; Nagel, F.; Majewski, F. : Familial arhinia, choanal atresia, and microphthalmia Am. J. Med. Genet. 63: 310-313, 1996. PubMed ID : 8723126
Bosma, J. F.; Henkin, R. I.; Christiansen, R. L.; Herdt, J. R. : Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotropic hypogonadism in two males. J. Craniofac. Genet. Dev. Biol. 1: 153-184, 1981. PubMed ID : 6802865
Gifford, G. H., Jr.; Swanson, L.; MacCollum, D. W. : Congenital absence of the nose and anterior nasopharynx: report of two cases. Plast. Reconst. Surg. 50: 5-12, 1972. PubMed ID : 5032329