incontinentia pigmenti/asthenia

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Incontinentia pigmenti: association with anterior horn cell degeneration.

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Incontinentia pigmenti (IP) has been associated with CNS involvement, including seizures, retardation, motor abnormalities, and malformations in greater than 30% of patients. Motor symptoms include spasticity and hyperreflexia; however, weakness and flaccidity have also been described. Peripheral

Ocular findings in triploidy.

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We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and

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