類先端巨人症顔貌症候群
WordNet
- formal attendance (in court or at a hearing) of a party in an action (同)appearing, coming into court
- pretending that something is the case in order to make a good impression; "they try to keep up appearances"; "that ceremony is just for show" (同)show
- outward or visible aspect of a person or thing (同)visual aspect
- the act of appearing in public view; "the rookie made a brief appearance in the first period"; "it was Bernhardts last appearance in America"
- a mental representation; "I tried to describe his appearance to the police"
- the event of coming into sight
- of or pertaining to the outside surface of an object
- care for the face that usually involves cleansing and massage and the application of cosmetic creams
- cranial nerve that supplies facial muscles (同)facial_nerve, nervus_facialis, seventh_cranial_nerve
- of or concerning the face; "a facial massage"; "facial hair"; "facial expression"
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- 〈C〉『現れること』,出現;出演,出廷;出版,発刊 / 〈U〉〈C〉『外観』,見かけ,風さい(outward look) / 《複数形で》形勢
- 顔の;顔用の / (マッサージや化粧品による)顔の手入れ
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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- 1. 先端巨大症の診断diagnosis of acromegaly [show details]
…feet, which result in increasing shoe and glove size and the need to enlarge finger rings. The facial features become coarse, with enlargement of the nose and frontal bones as well as the jaw, and the … the rate of change is so slow that few patients seek care because their appearance had changed.… secreting GHRH, ectopic secretion of GH by a nonendocrine tumor, and excess growth factor activity (acromegaloidism) . MRI of the head and pituitary should identify some of these other tumors. If the MRI is normal …
- 2. 高身長や異常に急激な成長がみられる小児the child with tall stature and or abnormally rapid growth [show details]
… obtained by assessing the appearance and shape of the growth plates and bones of the left… a rare autosomal recessive disorder. The main clinical features, in addition to overgrowth and acromegaloid changes, are generalized absence of subcutaneous fat, muscular hypertrophy, hyperpigmentation…
- 3. 思春期に生じる多嚢胞性卵巣症候群の診断的評価diagnostic evaluation of polycystic ovary syndrome in adolescents [show details]
…PCOS, including virilization (eg, rapidly progressive hirsutism), galactorrhea, Cushingoid or acromegaloid changes, evidence of thyroid dysfunction, or a family history of hyperandrogenic disorders …
- 4. マルファン症候群および関連疾患の遺伝学、臨床的特徴、および診断genetics clinical features and diagnosis of marfan syndrome and related disorders [show details]
… The term cystic medial necrosis was coined by Erdheim to describe the lacunar appearance of medial degeneration in MFS; however no actual cysts or overt necrosis is present .… extension (≤170 degrees with full extension): 1 point Facial features (at least three of the following five features:…
- 5. 常染色体優性型高IgE症候群autosomal dominant hyperimmunoglobulin e syndrome [show details]
… Patients with this syndrome have characteristic facial features and skeletal findings,… leading to the characteristic cold (noninflamed) appearance of abscesses in some of these patients .…
English Journal
- De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
- Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.
- Pediatric dermatology. ;33(2)e109-13.
- A 13-year-old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid formation, and multiple labial frenula was referred to our clinic for counseling. Molecular analysis of the ABCC9 gene showed a de novo missens
- PMID 26871653
- Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
- Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.
- American journal of medical genetics. Part A. 2013 Feb;161A(2)295-300.
- We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical featur
- PMID 23307537
- Acromegaloid facial appearance syndrome: a further case report.
- Kini U, Clayton-Smith J.
- Clinical dysmorphology. 2004 Oct;13(4)251-3.
- We report a further patient with the acromegaloid facial appearance (AFA) syndrome. The phenotype of our patient includes a progressively coarse acromegaloid-like facial appearance with thickening of the lips and of the gums as previously described and severe learning difficulties. The patient's pat
- PMID 15365463
Related Links
- A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and ...
- Acromegaloid Facial Appearance Syndrome Is also known as afa syndrome, thick lips and oral mucosa. Researches and researchers Currently, we don't have any information about doctors, researches or researchers related to ...
- In a family with acromegaloid facial appearance syndrome, Hughes et al. (1985) found low positive lod scores for linkage between the disorder and Rh and PGM1 (on 1p), GLO (on 6p), IGHG and PI (on 14q), and HP (on 16q).
★リンクテーブル★
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- 英
- acromegaloid facial appearance syndrome
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- 出現、発生。出頭、出廷。出演、出場。出版、発刊
- 外観、うわべ、見かけ、外見、様相、様子、体面、体裁、(人の)風采
- (ものの)感覚的印象、感じ(方)
- (自然の)現象
- 関
- advent, appear, arrival, emerge, emergence, figure, form, look, manifestation, occurrence, shape, situation
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- 関
- face
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