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Year: 2013  Vol. 17   Num. Suppl. 1  - Print:
ABLEPHARON-MACROSTOMIA SYNDROME AND HEARING STATUS IN TWO FAMILIAL CASES
Author(s):
Gabriela Aparecida Prearo, Melissa Zattoni Antoneli
Abstract:

BACKGROUND AND PURPOSE: Ablepharon macrostomia syndrome (AMS) is a rare condition characterized by absent or short eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absent hair. Brancati et al. (2004) reported an estimated occurrence of hearing loss in 70% of this population. Studies on hearing in AMS patients were not found in the research papers reviewed by us. CASES REPORT: The first patient studied was the eldest child of a 23-year-old mother and a non-consanguineous 25-year-old father. She presented with sparse scalp hair, cup-shaped ears, a broad nasal root, anteverted nares, grooving of the alar wings, macrostomia, webbed fingers, redundant skin, and hypoplastic nipples and labia. She has not shown any neuropsychomotor delay, and her speech was normal. Her hearing was assessed at age 15 and hearing loss at 6 kHz was ascertained. The second patient was the third child of the same couple. She had very short eyelids, a low nasal bridge with hypoplastic and anteverted nostrils, macrostomia, small and abnormally-modeled ears, absent nipples, a 6-cm omphalocele, an anteriorly-located anus, hypoplasia of the labia major, hypoplastic nails, distal attenuation of the phalanges, and redundant skin. She is developing neuropsychomotor delay and has normal speech with mild, bilateral conductive hearing loss. Audiologic evaluation included 4 procedures: determination of clinical audiological history, otological inspection, immittance measures, pure tone, and speech audiometry. CONCLUSIONS: Both AMS patients showed mild hearing loss, which is a previously described finding in this condition. Hearing loss may be considered part of the AMS phenotype.

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