Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

Abstract excerpt

We describe two patients with upper eyelid coloboma, hypertelorism, disruption of the eyebrow, and anterior hairline anomaly. The phenotype in our patients is consistent with Manitoba Oculotrichoanal syndrome (MOTA syndrome, OMIM 248450), which comprises a variable spectrum of eyelid malformations ranging from cryptophthalmos to upper eyelid colobomas; aberrant ipsilateral anterior hairline, and anal anomalies....

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