WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- of or relating to the ectoderm (同)ectodermic
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
- the outer germ layer that develops into skin and nervous tissue (同)exoderm, ectoblast
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. 青年や成人の労作性熱中症：疫学、体温調節、危険因子、および診断 exertional heat illness in adolescents and adults epidemiology thermoregulation risk factors and diagnosis
- 2. 遺伝性皮膚症 the genodermatoses
- 3. 色素失調症 incontinentia pigmenti
- 4. 歯の解剖学的構造および発達 anatomy and development of the teeth
- 5. 複合免疫不全 combined immunodeficiencies
English Journal
- A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.
- Vázquez-Osorio I1, Chmel N2, Rodríguez-Díaz E1, Gonzalvo-Rodríguez P3, Happle R2, Bueno E4, Has C2, Torrelo A5.
- The British journal of dermatology.Br J Dermatol.2017 Feb 9. doi: 10.1111/bjd.15374. [Epub ahead of print]
- Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which res
- PMID 28182260
- Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
- Hyder Z1, Beale V, O'Connor R, Clayton-Smith J.
- Clinical dysmorphology.Clin Dysmorphol.2017 Feb 3. doi: 10.1097/MCD.0000000000000172. [Epub ahead of print]
- The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual
- PMID 28166087
- [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
- Callea M1, Cammarata-Scalisi F2, Willoughby CE3, Giglio SR4,5, Sani I4, Bargiacchi S4, Traficante G4, Bellacchio E6, Tadini G7,8, Yavuz I9, Galeotti A10, Clarich G11.
- Archivos argentinos de pediatria.Arch Argent Pediatr.2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34.
- Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by
- PMID 28097853
Japanese Journal
- Hypercalcemia FOllowing Umbilical Cord Blood Transplantation to Correct Osteopetrosis Associated with the Nemo Mutation
- Sasaki Shinya,Kamio Takuya,Kudo Ko,Sato Tomohiko,Tono Chikako,Takahashi Yoshihiro,Terui Kiminori,Ito Etsuro
- 弘前医学 64(Supplement), S86-S89, 2013-04-02
- … X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency（ XL-EDA-ID） is a congenital developmental and immunologic disorder, which often causes osteopetrosis. …
- NAID 120005230057
- Characteristics of Craniofacial and Oral Status in Ectodermal Dysplasia
- Terada Hidefumi,Matsune Kensuke
- International Journal of Oral-Medical Sciences 10(4), 301-310, 2012
- … Ectodermal dysplasia (ED) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, hypohidrosis, and a specific facial appearance, which is essentially a congenital malformation in pediatric dentistry. …
- NAID 130002051665
Related Links
- Current classification of ectodermal dysplasias is based on clinical features. Pure ectodermal dysplasias are manifested by defects in ectodermal structures alone, while ectodermal dysplasia syndromes are defined by ...
- Ectodermal dysplasias are a diverse group of genetic disorders that involve defects of the hair, nails, teeth, skin and glands. Learn more in our library. Ectodermal dysplasias are a diverse group of genetic disorders that involve defects ...
- Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. A condition is considered X-linked ...
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★リンクテーブル★
| リンク元 | 「先天性外胚葉形成不全」「先天性外胚葉異形成症」 |
| 関連記事 | 「congenita」「ectodermal」「congenital」 |
「先天性外胚葉形成不全」
「先天性外胚葉異形成症」
「congenita」
- adj.
- (後置するラテン語形容詞)先天性の
- ex.
「ectodermal」
- 外胚葉性の、外胚葉の
「congenital」
- adj.
- 生まれつきの、先天的な