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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