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porokeratosis/uziwi

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic regions and ethnic backgrounds have been reported

Skin manifestations in a case of trisomy 16 mosaicism.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis.
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