Research view
| Title: | Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation |
| Author: | M?garban? A |
| 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
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| Journal: | Am J Med Genet A. 2003 Feb 1;116A(4):381-4. |