نتایج جستجو برای: ulerythema ophryogenes

تعداد نتایج: 13  

Journal: :American journal of medical genetics. Part A 2005
Ophir D Klein Philip D Cotter Ann M Schmidt David P Bick William E Tidyman Donna G Albertson Daniel Pinkel Katherine A Rauen

Interstitial deletions of chromosome 12q are rare, with only 11 reported cases in the literature. We recently described two cases with cytogenetically identical interstitial deletions of the long arm of chromosome 12. Here, we report on a third patient, a 26-month-old male with a cytogenetically-identical interstitial deletion: 46,XY,del(12)(q21.2q22). Phenotypic features of this male proband i...

Journal: :acta medica iranica 0
p. mansouri. m. r. mortazavi z. saraii naragki

keratosis follicularis spinulosa decalvans (kfsd) represents a rare, probably x-linked recessive genodermatosis, characterized by keratosis pilaris of face, trunk and extremities, followed by atrophy, cicatricial alopecia of the scalp, eyebrows and eyelashes, photophobia and corneal abnormalities. we report a rare case of kfsd and review the literature.

Journal: :JAMA: The Journal of the American Medical Association 1898

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