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.
Copyright 2003 Wiley-Liss, Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple*
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Child
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Child, Preschool
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Consanguinity
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Electroencephalography
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Face / abnormalities*
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Humans
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Intellectual Disability* / genetics
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Intellectual Disability* / pathology
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Male
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Microcephaly* / genetics
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Microcephaly* / pathology
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Optic Atrophy* / congenital
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Optic Atrophy* / genetics
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Optic Atrophy* / pathology
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Syndrome