[Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child].
نویسندگان
چکیده
Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.
منابع مشابه
Chromosomal study of Bloom syndrome: Report of a case
Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...
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عنوان ژورنال:
- Gaceta medica de Mexico
دوره 152 6 شماره
صفحات -
تاریخ انتشار 2016