Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.
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, and delay in speech development. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931-934] and Wilson et al. [1998: Am J Med Genet 75:220-222]. They were prenatally 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 13:413-416] 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.
Dumić
Miroslav
M
Department of Pediatrics, University Hospital Zagreb-Rebro, Kiŝpatićeva 12, 10000 Zagreb, Croatia.
Cvitanović
Marijana
M
Sarić
Borna
B
Spehar
Anita
A
Batinica
Stipe
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant