UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. ディジョージ（22q11.2欠失）症候群：臨床的特徴および診断digeorge 22q11 2 deletion syndrome clinical features and diagnosis [show details]
…association patients. The Opitz G/BBB syndrome is characterized by ocular hypertelorism, asymmetry of the skull, hypospadias, and laryngoesophageal defects . These features distinguish Opitz G/BBB from DGS. The …
2. ダウン症の母体血清スクリーニングに関する臨床検査の問題laboratory issues related to maternal serum screening for down syndrome [show details]
…predictable. These cases may be identified by second-trimester trisomy 18 screening protocols. Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive defect in a cholesterol biosynthetic enzyme, C7-reductase…
3. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment [show details]
…hepatoerythropoietic porphyria. Diagnosis and treatment of the porphyrias are discussed separately. Smith-Lemli-Opitz syndrome is a rare, congenital, multiple anomaly syndrome caused by an inborn error of cholesterol …
4. 性分化の差の原因causes of differences of sex development [show details]
…17-beta-hydroxysteroid dehydrogenase (17-beta-HSD) deficiency; 5-alpha reductase deficiency; Smith-Lemli-Opitz syndrome; These and some even rarer causes of DSDs are described below and outlined in the tables…
5. 症候群をきたす免疫不全症syndromic immunodeficiencies [show details]
…velocardiofacial syndrome (VCFS), and (less commonly) Opitz G/BBB (oculogenitolaryngeal) syndrome. DiGeorge syndrome and VCFS are reviewed in more detail separately. The Opitz G/BBB syndrome is characterized by ocular …

★リンクテーブル★

リンク元	「オピッツ症候群」「オピッツ-フリアス症候群」
関連記事	「症候群」「群」「症候」

「オピッツ症候群」

　　[★]

英: Opitz syndrome
同: オピッツ・フリアス症候群 Opitz-Frias syndrome、両眼開離尿道下裂症 telecanthus hypospadias、Opitz oculo-genito-laryngeal syndrome

Opitz syndrome , Opitz-Frias syndrome a familial syndrome consisting of hypertelorism and hernias, and in males also characterized by hypospadias, cryptorchidism, and bifid scrotum. Cardiac, laryngotracheal, pulmonary, anal, and renal abnormalities may also be present.