منابع مشابه
Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
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PURPOSE To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. CASE REPORT A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundu...
متن کاملWarkany Syndrome: A Rare Case Report
Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.
متن کاملA rare case report: SCARF syndrome
KEY CLINICAL MESSAGE SCARF syndrome is a very rare syndrome that so far only two cases have been reported in the papers. In this article, a 3-month-old female who exhibited SCARF syndrome presented with multiple congenital abnormalities and problems at Imam Hossein hospital of Shahroud.
متن کاملPolysplenia syndrome - a rare case report
The aim of this study is to report a case of polysplenia syndrome observed in an 1 1/2 yr. old male patient who came for CT thorax for preoperative evaluation of congenital heart disease. There was partial anomalous pulmonary venous drainage – right lung was draining into right atrium and left lung into left atrium. The IVC was interrupted and venous return was via the continuation of enlarged ...
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ژورنال
عنوان ژورنال: Indian Journal of Pathology and Microbiology
سال: 2019
ISSN: 0377-4929
DOI: 10.4103/ijpm.ijpm_397_18