Art

J-GLOBAL ID：200902287471515549   Reference number：09A0834028

Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia

肺形成不全を伴うRodriguez致死性四肢顔面骨形成不全症症候群

Author (3)： MIYAWAKI Masakazu (Wakayama Medical Univ., Wakayama, JPN) ,  HIGUCHI Ryuzo (Wakayama Medical Univ., Wakayama, JPN) ,  YOSHIKAWA Norishige (Wakayama Medical Univ., Wakayama, JPN)
Material： Pediatrics International  (Pediatr Int)
Volume： 51  Issue： 4  Page： 593-595  Publication year： Aug. 2009 
JST Material Number： W1358A  ISSN： 1328-8067  Document type： Article
Article type： 短報  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *Osteogenesis Imperfecta ,...
Semi thesaurus term： *Nager症候群 ,...

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JST classification (2)： Gynecologic and obstetrical diseases  (GS03000D) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (10)：

• RODRIGUEZ, JI. New acrofacial dysostosis syndrome in 3sibs. Am. J. Med. Genet. 1990, 35, 484-489
• PETIT, P. Acrofacial dysostosis syndrome type Rodriguez : A new lethal MCA syndrome. Am. J. Med. Genet. 1992, 42, 343-345
• BATES, AW. Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. Clin. Dysmorphol. 2002, 11, 63-66
• WESSELS, MW. Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. Am. J. Med. Genet. 2002, 113, 97-100
• DIMITROV, B. Acrofacial dysostosis type Rodriguez. Am. J. Med. Genet. 2005, 135, 81-85

Terms in the title (4)： 肺形成不全 ,  致死性 ,  四肢顔面骨形成不全症 ,  症候群