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Two Autopsy Cases (Siblings) of Congential Thymic Abnormality (DiaGeorgeSyndrome)

山口医学 Volume 28 Issue 3-4 Page 353-372
published_at 1979-12
Title
同胞に認められた先天性胸腺異常の2剖検例(DiGeorge症候群)
Two Autopsy Cases (Siblings) of Congential Thymic Abnormality (DiaGeorgeSyndrome)
Creators Urago Atsushi
Creators Funakoshi Keisuke
Creators Rhee Jaein
Creators Satou Ryoichi
Creators 古庄 巻史
Creators 高橋 学
Creators 末森 多賀生
Source Identifiers
Two siblings (2-year-9-month-old famele, 11-month-old male) showed similar clinical course. Following normal gestations and births, the infants first noticed feeding difficulty. After admission, muscular rigidity and tremor, blindness, deafness, severe dwarfism, lack of mental development, and infection repeating syndrome were observed. The immunoglobulin levels were almost normal. At autopsy, the thymus of sister was hypoplastic and that of brother was aplastic, accompanied by parathyroid and thyroid dysplasia in both cases. Histologically, the thymus-dependent areas of lymphoid tissues were hypoplastic and composed of large or medium-sized lymphocytes, reticulum cells…
Subjects
医学 ( Other)
Languages jpn
Resource Type journal article
Publishers 山口大学医学会
Date Issued 1979-12
File Version Not Applicable (or Unknown)
Access Rights metadata only access
Relations
[ISSN]0513-1731
[NCID]AN00243156
Schools 医学部