Journal of pediatric ophthalmology and strabismus · 2001
Ocular and clinical manifestations of Möbius' syndrome.
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Cronemberger M F, de Castro Moreira J B, Brunoni D, Mendonça T S, Alvarenga E H, Rizzo A M, Diogo S M
Аннотация
PURPOSE: To assess ocular and otorhinolaryngologic manifestations and intellectual ability in patients with Möbius' syndrome.
METHODS: Patients with Möbius' syndrome underwent prospective ophthalmic, genetic-clinical, and otorhinolaryngologic examinations as well as psychological evaluation.
RESULTS: Sixteen patients with Möbius' syndrome between the ages of 8 months and 10.6 years underwent ocular examination. Esotropia was present in 12 (75%) patients and V-pattern in 8 (50%). Limited abduction was present in 30 (93.8%) eyes, and limited adduction was present in 21 (65.6%) eyes. The most frequent refractive error was compound hyperopic astigmatism (13 [40.6%] eyes). Eleven (68.8%) patients had lagophthalmos and 12 (75%) patients had bilateral epicanthus. Unilateral amblyopia was present in 2 (12.5%) patients. Clubfoot was the most common lower limb defect (7 [43.8%] patients). Cranial nerve impairments included paralysis of 7th nerve in all patients, paralysis of the 12th nerve in 13 patients, and paralysis of the 9th and 10th nerves in 3 patients. Evaluation of intellectual ability showed that 4 (25%) patients had normal intelligence. The mothers of 3 (18.8%) patients used misoprostol during the first trimester of pregnancy.
CONCLUSION: Prominent ophthalmic features of Möbius' syndrome in this series were esotropia, V-pattern, abduction limitation, and compound hyperopic astigmatism. Intellectual assessment showed some degree of mental retardation in 75% of patients. Möbius' syndrome is associated with prenatal exposure to misoprostol.
METHODS: Patients with Möbius' syndrome underwent prospective ophthalmic, genetic-clinical, and otorhinolaryngologic examinations as well as psychological evaluation.
RESULTS: Sixteen patients with Möbius' syndrome between the ages of 8 months and 10.6 years underwent ocular examination. Esotropia was present in 12 (75%) patients and V-pattern in 8 (50%). Limited abduction was present in 30 (93.8%) eyes, and limited adduction was present in 21 (65.6%) eyes. The most frequent refractive error was compound hyperopic astigmatism (13 [40.6%] eyes). Eleven (68.8%) patients had lagophthalmos and 12 (75%) patients had bilateral epicanthus. Unilateral amblyopia was present in 2 (12.5%) patients. Clubfoot was the most common lower limb defect (7 [43.8%] patients). Cranial nerve impairments included paralysis of 7th nerve in all patients, paralysis of the 12th nerve in 13 patients, and paralysis of the 9th and 10th nerves in 3 patients. Evaluation of intellectual ability showed that 4 (25%) patients had normal intelligence. The mothers of 3 (18.8%) patients used misoprostol during the first trimester of pregnancy.
CONCLUSION: Prominent ophthalmic features of Möbius' syndrome in this series were esotropia, V-pattern, abduction limitation, and compound hyperopic astigmatism. Intellectual assessment showed some degree of mental retardation in 75% of patients. Möbius' syndrome is associated with prenatal exposure to misoprostol.