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  • Title: Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
    Author: Mégarbané A.
    Journal: Am J Med Genet A; 2003 Feb 01; 116A(4):381-4. PubMed ID: 12522796.
    Abstract:
    We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.
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