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present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

(病気・身体的欠陥など)生まれつきの,先天的な

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1. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy
2. 先天性血管腫：急速退縮性先天性血管腫（RICH）および非退縮性先天性血管腫（NICH） congenital hemangiomas rapidly involuting congenital hemangioma rich and noninvoluting congenital hemangioma nich
3. 早期副腎皮質性第二次性徴 premature adrenarche
4. Evaluation and management of postmenopausal hyperandrogenism
5. 男性型多毛症の病因と原因 pathogenesis and causes of hirsutism

English Journal

Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F.SourceLaboratory of Mendelian Diabetes, Bambino Gesù Childrens' Hospital, Rome, Italy.
Acta diabetologica.Acta Diabetol.2013 Dec;50(6):951-7. doi: 10.1007/s00592-013-0490-x. Epub 2013 Jul 4.
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patie
PMID 23824322

Congenital dermatofibrosarcoma with associated hypertrichosis.

Berry RS, Berry TM, Haney M, Shetty A, Yu L, Smidt AC.SourceDepartment of Pathology, University of New Mexico School of Medicine, Albuquerque, NM.
Journal of cutaneous pathology.J Cutan Pathol.2013 Dec;40(12):990-2. doi: 10.1111/cup.12259.
PMID 24274422

[Aicardi syndrome: retrospective study of a series of seven case reports].

Fernandez-Ramos JA, Lopez-Laso E, Simon-De Las Heras R, Camino-Leon R, Guerra-Garcia P, Camacho-Salas A, Aguilar-Quintero M, Nunez-Enamorado N.SourceHospital Reina Sofia, 14004 Cordoba, Espana.
Revista de neurologia.Rev Neurol.2013 Dec 1;57(11):481-8.
in

English, SpanishTITLE: Sindrome de Aicardi: estudio retrospectivo de una serie de siete casos.Introduccion. El sindrome de Aicardi es un trastorno presumiblemente dominante ligado al cromosoma X, que afecta en exclusiva a mujeres, clasicamente definido por la triada de agenesia del cuerpo cal

PMID 24265141

Japanese Journal

Congenital Hemihypertrophy with Hemihypertrichosis

AKARSU Saadet,COSKUN Basak Kandi,AYDIN Ayse Murat,TEKATLI Muhittin,AYGUN A. Denizmen
Journal of dermatology 32(6), 478-481, 2005-06-01
NAID 10020273791

脊髄正中離開症の診断と外科的治療

北原宏,南昌平,磯部啓二郎,中田好則,ミナミショウヘイ,MINAMI Shohei,磯部啓二郎,イソベケイジロウ,ISOBE Keijiro,中田好則,ナカタヨシノリ,NAKATA Yoshinori
千葉医学雑誌 72(2), 137-145, 1996-04-01
… 診断には,orthopedic syndrome, cutaneous changes (hypertrichosis, skin dimple, hemangioma, tumor mass etc.),神経症状を参考に,レ線では先天性側弯症,潜在性二分脊椎(spina bifida occulta)の有無を検索し,脊髄の検索には脊髄造影,CT, CT-myelography, MRIが必須である。 …
NAID 110004650745