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…
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