Abstract
A 4-year and 7 month-old boy was admitted to our facility with the complaints of blepharophimosis, blepharoptosis, and epicanthus inversus in association with hypertelorism, cleft palate, mental deficiency, hearing loss, and craniosynostosis. The patient also had umbilical depression and small hands with bilaterally short fifth fingers. These clinical features led us to think that they are the components of a single syndrome, which may be referred to as ''3MC1 syndrome.'' The main characteristics of 3MC1 syndrome are the facial dysmorphic traits and include hypertelorism, blepharophimosis and blepharoptosis. Other related symptoms are cleft lip and palate, postnatal growth deficit, cognitive impairment and hearing loss, craniocynosis, radioulnar synostosis and genital and vesicorenal anomalies. The etiological causes of 3MC1 are still unknown.
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