Hyperexplexia or stiff baby syndrome.

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چکیده

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Neonatal hyperekplexia: the Stiff-Baby syndrome.

Neonatal hyperekplexia is a rare autosomal dominant startle disorder. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc. While the long-term prognosis is relatively benign, sudden death due to severe spasms have been seen in sporadic cases. We report a case of hyperekplexia with some typical and some unusual findings.

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Congenital fascial dystrophy or stiff skin syndrome: a case report.

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Congenital Fascial Dystrophy or Stiff Skin Syndrome: A Case Report

1. Kanitakis J, Lora V. Pagetoid dyskeratosis: A frequent pitfall in dermatopathology. Eur J Dermatol. 2010;20:123--4. 2. Toyonaga E, Inokuma D, Abe Y, Abe R, Shimizu H. Pagetoid dyskeratosis with parallel ridge pattern under dermoscopy. JAMA Dermatol. 2013;149:109--11. 3. Frenk E, Delacrétraz J. Hydropic degeneration of epidermal keratinocytes. An alteration leading to patchy hyperpigmentation...

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Stiff Person Syndrome.

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1991

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.66.4.460