Naslov
Choanal Stenosis, Hypothelia, Deafness, Recurrent Dacryocystitis, Neck Fistulas, Short Stature, and Microcephaly: Report of a case

Autori
Dumić, Miroslav ; Cvitanović, Marijana ; Šarić, Borna ; Špehar, Anita ; Batinica, Stipe

Izvornik
American journal of medical genetics (0148-7299) 113 (2002); 295-297

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
choanal stenosis ; hypothelia ; phenocopy ; methimazole

Sažetak
We report on a 11-year-old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic nipples, hypotonia, anddelay in speech development. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931&#8211 ; 934] and Wilson et al. [1998: Am J Med Genet 75:220&#8211 ; 222]. They were prenataly exposed to methimazole because of maternal Graves disease. Neck fistulas and microcephaly noted in our patient were not previously reported as features of the syndrome or in the patients prenataly exposed to methimazole. Our patient and those reported by Qazi et al. [1982: Am J Med Genet 13:413&#8211 ; 416] most probably have a rare syndrome characterized by this distinctive combination of symptoms. Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA