Art

J-GLOBAL ID：200902168423176326   Reference number：01A0226325

Case of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome with Developmental Dislocation of the Hip.

眼けん裂狭小症候群に伴った先天性股関節脱臼の1例

Author (5)： IWATA SHIN'ICHIRO (慶応大 医) ,  YOSHIDA HIROSHI (慶応大 医) ,  YAGIMOTO SHIGERU (慶応大 医) ,  TOYAMA YOSHIAKI (慶応大 医) ,  OYAMA YASUO (神奈川県厚生連 伊勢原協同病院)
Material： 日本小児整形外科学会雑誌  (Journal of Japanese Paediatric Orthopaedic Association)
Volume： 10  Issue： 1  Page： 1-5  Publication year： Jan. 25, 2001 
JST Material Number： L1281A  ISSN： 0917-6950  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *Hip Dislocation ,...
Semi thesaurus term： 眼けん裂狭小症候群 ,...

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JST classification (2)： Musculoskeletal diseases  (GG03000T) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (15)：

• AL-AWADI, SA. Complex translocation involving chromosomes Y, 1, 3 resulting in deletion of segment 3 q-23 q 25. J Med Genet. 1986, 23, 91-92
• ALVARADO, M. Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenootype. Am J Med Genet. 1987, 27, 781-786
• AMATI, P. Nivelon-Chevalier A et al: A gene for blephalophimosis-ptosisepicanthus inversus syndorome maps to chromosome 3 q 23. Hum Genet. 1995, 96, 213-215
• FRANCESCHINI, P. Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet. 1983, 64, 97
• FRYNS, JP. Further evidence for the location of the blepharophimosis syndorome(BPES)at 3 q 22.3-q 23. Clin Genet. 1993, 44, 149-151

Terms in the title (4)： 眼 ,  けん裂狭小 ,  症候群 ,  先天性股関節脱臼